2024-04-19 15:01:07, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005572 2077 bp mRNA linear PRI 15-JUL-2013 DEFINITION Homo sapiens lamin A/C (LMNA), transcript variant 2, mRNA. ACCESSION NM_005572 VERSION NM_005572.3 GI:153281091 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2077) AUTHORS Liu,Y., Drozdov,I., Shroff,R., Beltran,L.E. and Shanahan,C.M. TITLE Prelamin A accelerates vascular calcification via activation of the DNA damage response and senescence-associated secretory phenotype in vascular smooth muscle cells JOURNAL Circ. Res. 112 (10), E99-E109 (2013) PUBMED 23564641 REMARK GeneRIF: Prelamin A accelerates vascular calcification via activation of the DNA damage response and senescence-associated secretory phenotype in vascular smooth muscle cells. REFERENCE 2 (bases 1 to 2077) AUTHORS Singh,M., Hunt,C.R., Pandita,R.K., Kumar,R., Yang,C.R., Horikoshi,N., Bachoo,R., Serag,S., Story,M.D., Shay,J.W., Powell,S.N., Gupta,A., Jeffery,J., Pandita,S., Chen,B.P., Deckbar,D., Lobrich,M., Yang,Q., Khanna,K.K., Worman,H.J. and Pandita,T.K. TITLE Lamin A/C depletion enhances DNA damage-induced stalled replication fork arrest JOURNAL Mol. Cell. Biol. 33 (6), 1210-1222 (2013) PUBMED 23319047 REMARK GeneRIF: Lamin A/C has a role in the restart of stalled replication forks. REFERENCE 3 (bases 1 to 2077) AUTHORS Fontana,M., Barison,A., Botto,N., Panchetti,L., Ricci,G., Milanesi,M., Poletti,R., Positano,V., Siciliano,G., Passino,C., Lombardi,M., Emdin,M. and Masci,P.G. TITLE CMR-verified interstitial myocardial fibrosis as a marker of subclinical cardiac involvement in LMNA mutation carriers JOURNAL JACC Cardiovasc Imaging 6 (1), 124-126 (2013) PUBMED 23328570 REMARK GeneRIF: Letter: cine MRI showed that myocardial fibrosis is an intrinsic feature of cardiomyopathy in LMNA mutation carriers. REFERENCE 4 (bases 1 to 2077) AUTHORS Sims-Williams,H.P., Nye,H.J. and Walker,P.R. TITLE Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy JOURNAL BMJ Case Rep 2013 (2013) PUBMED 23329710 REMARK GeneRIF: Mutations in the lamin A/C (LMNA) gene cause significant disruption to skeletal and myocardial muscle, as well as nervous tissue. Publication Status: Online-Only REFERENCE 5 (bases 1 to 2077) AUTHORS Ruiz de Eguino,G., Infante,A., Schlangen,K., Aransay,A.M., Fullaondo,A., Soriano,M., Garcia-Verdugo,J.M., Martin,A.G. and Rodriguez,C.I. TITLE Sp1 transcription factor interaction with accumulated prelamin a impairs adipose lineage differentiation in human mesenchymal stem cells: essential role of sp1 in the integrity of lipid vesicles JOURNAL Stem Cells Transl Med 1 (4), 309-321 (2012) PUBMED 23197810 REMARK GeneRIF: Sp1 transcription factor interaction with accumulated prelamin a impairs adipose lineage differentiation in human mesenchymal stem cells: essential role of sp1 in the integrity of lipid vesicles. REFERENCE 6 (bases 1 to 2077) AUTHORS Martelli,A.M., Billi,A.M., Gilmour,R.S., Manzoli,L., Di Primio,R. and Cocco,L. TITLE Mouse and human hemopoietic cell lines of erythroid lineage express lamins A,B and C JOURNAL Biochem. Biophys. Res. Commun. 185 (1), 271-276 (1992) PUBMED 1599464 REFERENCE 7 (bases 1 to 2077) AUTHORS Dawson,S.J. and White,L.A. TITLE Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin JOURNAL J. Infect. 24 (3), 317-320 (1992) PUBMED 1602151 REFERENCE 8 (bases 1 to 2077) AUTHORS Clawson,G.A., Song,Y.L., Schwartz,A.M., Shukla,R.R., Patel,S.G., Connor,L., Blankenship,L., Hatem,C. and Kumar,A. TITLE Interaction of human immunodeficiency virus type I Rev protein with nuclear scaffold nucleoside triphosphatase activity JOURNAL Cell Growth Differ. 2 (11), 575-582 (1991) PUBMED 1667585 REFERENCE 9 (bases 1 to 2077) AUTHORS Rober,R.A., Gieseler,R.K., Peters,J.H., Weber,K. and Osborn,M. TITLE Induction of nuclear lamins A/C in macrophages in in vitro cultures of rat bone marrow precursor cells and human blood monocytes, and in macrophages elicited in vivo by thioglycollate stimulation JOURNAL Exp. Cell Res. 190 (2), 185-194 (1990) PUBMED 2209722 REFERENCE 10 (bases 1 to 2077) AUTHORS Heald,R. and McKeon,F. TITLE Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis JOURNAL Cell 61 (4), 579-589 (1990) PUBMED 2344612 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA421696.1, X03445.1 and AA558657.1. This sequence is a reference standard in the RefSeqGene project. On Jul 24, 2007 this sequence version replaced gi:27436944. Summary: The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]. Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter isoform (C) with a distinct C-terminus when compared to isoform prelamin A. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC000511.2, X03445.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-104 DA421696.1 43-146 105-1857 X03445.1 66-1818 1858-2077 AA558657.1 1-220 c FEATURES Location/Qualifiers source 1..2077 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q22" gene 1..2077 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /note="lamin A/C" /db_xref="GeneID:4000" /db_xref="HGNC:6636" /db_xref="HPRD:01035" /db_xref="MIM:150330" exon 1..605 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /inference="alignment:Splign:1.39.8" misc_feature 13..15 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /note="upstream in-frame stop codon" variation 27 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:188625872" STS 77..425 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /standard_name="PMC169171P1" /db_xref="UniSTS:271604" variation 122 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:80356803" variation 162 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:115800510" variation 247..261 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="gccatggagaccccg" /db_xref="dbSNP:267607546" CDS 250..1968 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /note="isoform C is encoded by transcript variant 2; lamin A/C-like 1; 70 kDa lamin; prelamin-A/C; renal carcinoma antigen NY-REN-32" /codon_start=1 /product="lamin isoform C" /protein_id="NP_005563.1" /db_xref="GI:5031875" /db_xref="CCDS:CCDS1131.1" /db_xref="GeneID:4000" /db_xref="HGNC:6636" /db_xref="HPRD:01035" /db_xref="MIM:150330" /translation="
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHVSGSRR
" misc_feature 250..639 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P02545.1); Region: Interaction with MLIP" misc_feature 250..348 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P02545.1); Region: Head" misc_feature 250..252 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="N-acetylmethionine; propagated from UniProtKB/Swiss-Prot (P02545.1); acetylation site" misc_feature 256..258 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphothreonine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 277..279 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 283..285 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 301..303 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 304..306 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphothreonine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 304..306 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:00302" misc_feature 304..306 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:01498" misc_feature 304..306 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 313..315 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 313..315 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /citation=[10] /db_xref="HPRD:00302" misc_feature 313..315 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 319..321 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 337..1383 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /note="Intermediate filament protein; Region: Filament; pfam00038" /db_xref="CDD:200948" misc_feature 349..1398 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P02545.1); Region: Rod" misc_feature 349..459 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P02545.1); Region: Coil 1A" misc_feature 460..489 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P02545.1); Region: Linker 1" misc_feature 490..903 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P02545.1); Region: Coil 1B" misc_feature 529..531 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 571..573 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="N6-acetyllysine; propagated from UniProtKB/Swiss-Prot (P02545.1); acetylation site" misc_feature 883..885 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 904..975 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P02545.1); Region: Linker 2" misc_feature 937..939 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:00977" misc_feature 937..939 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:03321" misc_feature 976..1398 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P02545.1); Region: Coil 2" misc_feature 1045..1047 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Heptad change of phase; propagated from UniProtKB/Swiss-Prot (P02545.1); other site" misc_feature 1057..1059 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="N6-acetyllysine; propagated from UniProtKB/Swiss-Prot (P02545.1); acetylation site" misc_feature 1078..1080 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 1078..1080 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1093..1095 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1150..1152 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 1180..1182 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="N6-acetyllysine; propagated from UniProtKB/Swiss-Prot (P02545.1); acetylation site" misc_feature 1222..1224 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /inference="non-experimental evidence, no additional details recorded" /note="Stutter (By similarity); propagated from UniProtKB/Swiss-Prot (P02545.1); other site" misc_feature 1237..1239 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Heptad change of phase; propagated from UniProtKB/Swiss-Prot (P02545.1); other site" misc_feature 1417..1419 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 1417..1419 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1417..1419 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1423..1425 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 1423..1425 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1423..1425 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /citation=[10] /db_xref="HPRD:00302" misc_feature 1423..1425 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1429..1431 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1432..1434 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 1432..1434 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1456..1458 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:01498" misc_feature 1459..1461 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 1459..1461 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:01498" misc_feature 1465..1467 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1468..1470 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1474..1476 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1489..1491 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 1489..1491 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1495..1497 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1498..1515 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P02545.1); Region: Nuclear localization signal (Potential)" misc_feature 1516..1518 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1519..1521 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1525..1527 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1540..1542 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 1543..1872 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /note="Lamin Tail Domain; Region: LTD; pfam00932" /db_xref="CDD:201513" misc_feature 1597..1599 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="N6-acetyllysine; propagated from UniProtKB/Swiss-Prot (P02545.1); acetylation site" misc_feature 1621..1623 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 1636..1638 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 1762..1764 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="Phosphothreonine; propagated from UniProtKB/Swiss-Prot (P02545.1); phosphorylation site" misc_feature 1822..1824 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:01498" variation 254 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:11549669" variation 260 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607620" variation 261 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:369823958" variation 265 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:61046466" variation 277..278 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="a" /db_xref="dbSNP:58727209" variation 278 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:57077886" variation 280 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="c" /db_xref="dbSNP:60029152" variation 300 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:11549668" STS 319..425 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /standard_name="PMC169171P2" /db_xref="UniSTS:271605" variation 322 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:58327533" variation 323 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:61578124" variation 324 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:80356804" variation 327 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:373721390" variation 331 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:59914820" variation 343..345 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="aag" /db_xref="dbSNP:60872029" variation 347 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607614" variation 348 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:57966821" variation 352 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:56694480" variation 353 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607644" variation 355 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607601" variation 364 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="t" /db_xref="dbSNP:267607627" variation 365 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:57983345" variation 376 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:60446065" variation 383 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:58436778" variation 385 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607615" variation 388 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607608" variation 396 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:376196924" variation 397 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:59931416" variation 398 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:60695352" variation 404 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607611" variation 407 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="t" /db_xref="dbSNP:60290646" variation 418 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:28928903" variation 425 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:58922911" variation 427 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:28928900" variation 433 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:56793579" variation 437 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:57793737" variation 441 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:137969290" variation 452..457 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="aggtgg" /db_xref="dbSNP:267607586" variation 463 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:17847247" variation 493 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:59270054" variation 503 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:28933090" variation 514 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607559" variation 515 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:59040894" variation 523 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607560" variation 538 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:59065411" variation 551 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607568" variation 580 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:61726475" variation 583..585 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="gag" /db_xref="dbSNP:61726474" variation 597..598 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="g" /db_xref="dbSNP:267607646" variation 604 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:17856971" exon 606..762 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /inference="alignment:Splign:1.39.8" variation 606 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:41313880" variation 618 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:367938270" variation 622 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607605" variation 643 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:61726478" variation 647 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:60864230" variation 655 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607619" variation 661 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607649" variation 668 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:60652225" variation 676 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:61661343" variation 677 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:58912633" variation 682 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:60310264" variation 687 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:80356805" variation 688 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:139875047" variation 697 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:58917027" variation 720 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:150645079" variation 724 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607622" variation 730 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:28933093" variation 734 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607594" variation 745 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:370200334" variation 746 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607570" variation 755 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="t" /db_xref="dbSNP:267607595" variation 762 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607542" exon 763..888 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /inference="alignment:Splign:1.39.8" variation 773 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:369714176" variation 775 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:149113760" variation 797 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607583" variation 805 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:61726479" variation 814 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607626" variation 815..816 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="cc" /replace="gg" /db_xref="dbSNP:267607643" variation 817 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:59026483" variation 818 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607571" variation 819..820 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="cgg" /db_xref="dbSNP:267607628" variation 824 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:57045855" variation 834 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:28933091" variation 837..845 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="gctgcagac" /db_xref="dbSNP:267607541" variation 856 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:61195471" variation 857 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:28933092" variation 861 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:12117552" variation 867 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607629" variation 871..873 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="aag" /db_xref="dbSNP:267607540" variation 873..875 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="gaa" /db_xref="dbSNP:267607551" variation 874 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="a" /db_xref="dbSNP:62636507" variation 878 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:267607572" exon 889..1059 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /inference="alignment:Splign:1.39.8" variation 893 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:61295588" variation 894 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:80356808" variation 905 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:267607584" variation 907 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:370134870" variation 911 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:372567202" variation 913 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:28928901" variation 914 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:58034145" variation 922 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:60682848" variation 923 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:199474724" variation 937 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:61214927" variation 940 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:11549666" variation 943 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607609" variation 944 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:57207746" variation 949 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607573" variation 952 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:201227908" variation 972 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:58235810" variation 979 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:201866557" variation 985 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607587" variation 992 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:58850446" variation 994 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:121912496" variation 995 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:59332535" variation 1000..1001 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="c" /db_xref="dbSNP:34777960" variation 1024 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:60578328" variation 1026 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="t" /db_xref="dbSNP:58048078" variation 1030..1032 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="aag" /db_xref="dbSNP:58978449" variation 1037 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607625" variation 1038 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:148557956" variation 1048 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607593" variation 1049 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:57048196" variation 1051 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607630" variation 1059 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607631" exon 1060..1185 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /inference="alignment:Splign:1.39.8" variation 1061 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607641" variation 1064..1067 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="acaa" /replace="ccagac" /db_xref="dbSNP:267607616" variation 1104 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="g" /db_xref="dbSNP:59564495" variation 1104 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:373384985" variation complement(1110) /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:538089" variation 1113..1116 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="ccac" /db_xref="dbSNP:60168366" variation 1130 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:61616775" variation 1132 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607633" variation 1135 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:375987939" variation 1141 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:59885338" variation 1144 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:150924946" variation 1145 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607684" variation 1147 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607591" variation 1148 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:79907212" variation 1154 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607596" variation 1156 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:61527854" variation 1157..1158 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="ct" /db_xref="dbSNP:59684335" exon 1186..1406 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /inference="alignment:Splign:1.39.8" variation 1198 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:56816490" variation 1201 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607574" variation 1207 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:3209921" variation 1208 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="t" /db_xref="dbSNP:56771886" variation 1210 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607554" variation 1225 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="t" /db_xref="dbSNP:56851164" variation 1239 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:140800215" variation 1241 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:59301204" variation 1250 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:370656306" variation 1253 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:138592977" variation 1256 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:58105277" variation 1266 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:17847242" variation 1271 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:11549667" variation 1277 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:61177390" variation 1288 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607548" variation 1294 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607555" variation 1295 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:58789393" variation 1296 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:147015659" variation 1297 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607610" variation 1306 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:267607623" variation 1312 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607617" variation 1313..1315 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="agc" /db_xref="dbSNP:267607635" variation 1318 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607567" variation 1320 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:376875762" variation 1321 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:60458016" variation 1330 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607634" variation 1334 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="t" /db_xref="dbSNP:58389804" variation 1347 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:57901307" STS 1358..1640 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /standard_name="MARC_3281-3282:991936958:1" /db_xref="UniSTS:231005" variation 1361 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="t" /db_xref="dbSNP:59653062" variation 1363 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="g" /db_xref="dbSNP:267607575" variation 1371 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:143715750" variation 1379..1380 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="gccctggacatggagatccacgcctaccg" /db_xref="dbSNP:267607624" variation 1379 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:61672878" variation 1388 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:121912495" variation 1391 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:267607558" variation 1395 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:57508089" variation 1398 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607603" variation 1406 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:267607545" exon 1407..1629 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /inference="alignment:Splign:1.39.8" variation 1408 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607562" variation 1411 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:58133342" variation 1412 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607576" variation 1433 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607561" variation 1436 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:61693978" variation 1438 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:374726751" variation 1444 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:58672172" variation 1445 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607563" variation 1450 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:61094188" variation 1451 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:141490569" variation 1481 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607647" variation 1491 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:184946451" variation 1492 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607606" variation 1511 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607564" variation 1528 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:373584456" variation 1533 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:368831495" variation 1543 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607618" variation 1548 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:61217436" variation 1552 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:150840924" variation 1556..1557 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="gcac" /db_xref="dbSNP:267607577" variation 1564 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:62636506" variation 1566 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:374804871" variation 1567 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:121912493" variation 1572 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:140194535" variation 1573 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:368542816" variation 1586 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="t" /db_xref="dbSNP:58541611" variation complement(1587) /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:505058" variation 1595 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607637" variation 1606 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:58932704" variation 1607 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607598" variation 1610 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607638" variation 1611 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:151160622" variation 1613 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607597" variation 1615 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607599" variation 1616 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="t" /db_xref="dbSNP:60992550" variation 1617..1619 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="caa" /db_xref="dbSNP:267607550" variation 1617 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:61235244" variation 1619 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="a" /db_xref="dbSNP:267607549" variation 1625 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:372011095" exon 1630..1737 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /inference="alignment:Splign:1.39.8" variation 1630 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:267607642" variation 1639 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:200262654" variation 1643 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:61282106" variation 1646 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="a" /db_xref="dbSNP:58100028" variation 1648 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607639" variation 1655 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:57394692" variation 1660 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:28928902" variation 1661 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:267607578" variation 1673..1674 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="aga" /db_xref="dbSNP:267607579" variation 1690 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:57747780" variation 1692 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:56935051" variation 1693 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:57920071" variation 1694 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:11575937" variation 1707 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:59981161" variation 1711 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /db_xref="dbSNP:267607607" variation 1723 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:373480082" variation 1726 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:56699480" variation 1736 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:200466188" variation 1737 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:375516745" exon 1738..1857 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /inference="alignment:Splign:1.39.8" variation 1741 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="t" /db_xref="dbSNP:267607585" variation 1742 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="g" /db_xref="dbSNP:60556110" variation 1743 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:57730570" variation 1745 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="c" /db_xref="dbSNP:267607580" variation 1761..1762 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="ag" /db_xref="dbSNP:267607553" variation 1765 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:267607565" variation 1775..1776 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="c" /db_xref="dbSNP:58013325" variation 1779 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:138098342" variation 1784 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:57877560" variation 1800 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:41314035" variation 1807 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="g" /replace="t" /db_xref="dbSNP:267607557" variation 1808 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:58362413" variation 1815 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:149339264" variation 1816 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:201583907" variation 1828..1829 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="ctgc" /db_xref="dbSNP:58571998" variation 1828 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:57318642" variation 1829 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:57520892" variation 1832 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:57629361" variation 1833 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:80356812" variation 1834 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:121912494" variation 1835 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:60580541" variation 1838 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:60934003" variation 1850 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:144740174" exon 1858..2070 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /inference="alignment:Splign:1.39.8" variation 1868 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607547" variation 1870 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:56984562" variation 1871 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:61444459" variation 1875 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:56673169" variation 1882 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:267607613" variation 1883 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:142191737" variation 1888 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:201947393" variation 1905 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:370219874" variation 1906 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:373671419" variation 1909 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="g" /db_xref="dbSNP:71630616" variation 1911 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:201936898" variation 1913 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:141578711" variation 1929 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:17847249" variation 1947 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:4641" variation 1958..1959 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="c" /db_xref="dbSNP:370091195" variation 1960 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:80338938" variation 1961 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:200917748" variation 2007 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="a" /replace="g" /db_xref="dbSNP:368763171" variation 2026 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="" /replace="c" /db_xref="dbSNP:371440703" variation 2029 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" /replace="c" /replace="t" /db_xref="dbSNP:367740182" polyA_signal 2047..2052 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" polyA_site 2068 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" polyA_site 2070 /gene="LMNA" /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1" ORIGIN
aggaggacctattagagcctttgccccggcgtcggtgactcagtgttcgcgggagcgccgcacctacaccagccaacccagatcccgaggtccgacagcgcccggcccagatccccacgcctgccaggagcaagccgagagccagccggccggcgcactccgactccgagcagtctctgtccttcgacccgagccccgcgccctttccgggacccctgccccgcgggcagcgctgccaacctgccggccatggagaccccgtcccagcggcgcgccacccgcagcggggcgcaggccagctccactccgctgtcgcccacccgcatcacccggctgcaggagaaggaggacctgcaggagctcaatgatcgcttggcggtctacatcgaccgtgtgcgctcgctggaaacggagaacgcagggctgcgccttcgcatcaccgagtctgaagaggtggtcagccgcgaggtgtccggcatcaaggccgcctacgaggccgagctcggggatgcccgcaagacccttgactcagtagccaaggagcgcgcccgcctgcagctggagctgagcaaagtgcgtgaggagtttaaggagctgaaagcgcgcaataccaagaaggagggtgacctgatagctgctcaggctcggctgaaggacctggaggctctgctgaactccaaggaggccgcactgagcactgctctcagtgagaagcgcacgctggagggcgagctgcatgatctgcggggccaggtggccaagcttgaggcagccctaggtgaggccaagaagcaacttcaggatgagatgctgcggcgggtggatgctgagaacaggctgcagaccatgaaggaggaactggacttccagaagaacatctacagtgaggagctgcgtgagaccaagcgccgtcatgagacccgactggtggagattgacaatgggaagcagcgtgagtttgagagccggctggcggatgcgctgcaggaactgcgggcccagcatgaggaccaggtggagcagtataagaaggagctggagaagacttattctgccaagctggacaatgccaggcagtctgctgagaggaacagcaacctggtgggggctgcccacgaggagctgcagcagtcgcgcatccgcatcgacagcctctctgcccagctcagccagctccagaagcagctggcagccaaggaggcgaagcttcgagacctggaggactcactggcccgtgagcgggacaccagccggcggctgctggcggaaaaggagcgggagatggccgagatgcgggcaaggatgcagcagcagctggacgagtaccaggagcttctggacatcaagctggccctggacatggagatccacgcctaccgcaagctcttggagggcgaggaggagaggctacgcctgtcccccagccctacctcgcagcgcagccgtggccgtgcttcctctcactcatcccagacacagggtgggggcagcgtcaccaaaaagcgcaaactggagtccactgagagccgcagcagcttctcacagcacgcacgcactagcgggcgcgtggccgtggaggaggtggatgaggagggcaagtttgtccggctgcgcaacaagtccaatgaggaccagtccatgggcaattggcagatcaagcgccagaatggagatgatcccttgctgacttaccggttcccaccaaagttcaccctgaaggctgggcaggtggtgacgatctgggctgcaggagctggggccacccacagcccccctaccgacctggtgtggaaggcacagaacacctggggctgcgggaacagcctgcgtacggctctcatcaactccactggggaagaagtggccatgcgcaagctggtgcgctcagtgactgtggttgaggacgacgaggatgaggatggagatgacctgctccatcaccaccacgtgagtggtagccgccgctgaggccgagcctgcactggggccacccagccaggcctgggggcagcctctccccagcctccccgtgccaaaaatcttttcattaaagaatgttttggaactttaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:4000 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA GeneID:4000 -> Molecular function: GO:0005198 [structural molecule activity] evidence: TAS GeneID:4000 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:4000 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS GeneID:4000 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:4000 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS GeneID:4000 -> Biological process: GO:0006987 [activation of signaling protein activity involved in unfolded protein response] evidence: TAS GeneID:4000 -> Biological process: GO:0007077 [mitotic nuclear envelope disassembly] evidence: TAS GeneID:4000 -> Biological process: GO:0007084 [mitotic nuclear envelope reassembly] evidence: TAS GeneID:4000 -> Biological process: GO:0007517 [muscle organ development] evidence: IMP GeneID:4000 -> Biological process: GO:0030334 [regulation of cell migration] evidence: ISS GeneID:4000 -> Biological process: GO:0030951 [establishment or maintenance of microtubule cytoskeleton polarity] evidence: ISS GeneID:4000 -> Biological process: GO:0030968 [endoplasmic reticulum unfolded protein response] evidence: TAS GeneID:4000 -> Biological process: GO:0034504 [protein localization to nucleus] evidence: ISS GeneID:4000 -> Biological process: GO:0035105 [sterol regulatory element binding protein import into nucleus] evidence: IEA GeneID:4000 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: IEA GeneID:4000 -> Biological process: GO:0044267 [cellular protein metabolic process] evidence: TAS GeneID:4000 -> Biological process: GO:0055015 [ventricular cardiac muscle cell development] evidence: IEA GeneID:4000 -> Biological process: GO:0071456 [cellular response to hypoxia] evidence: IEP GeneID:4000 -> Biological process: GO:0090343 [positive regulation of cell aging] evidence: IDA GeneID:4000 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:4000 -> Cellular component: GO:0005635 [nuclear envelope] evidence: IDA GeneID:4000 -> Cellular component: GO:0005635 [nuclear envelope] evidence: TAS GeneID:4000 -> Cellular component: GO:0005637 [nuclear inner membrane] evidence: IEA GeneID:4000 -> Cellular component: GO:0005638 [lamin filament] evidence: IEA GeneID:4000 -> Cellular component: GO:0005638 [lamin filament] evidence: TAS GeneID:4000 -> Cellular component: GO:0005652 [nuclear lamina] evidence: TAS GeneID:4000 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:4000 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:4000 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:4000 -> Cellular component: GO:0005882 [intermediate filament] evidence: TAS GeneID:4000 -> Cellular component: GO:0048471 [perinuclear region of cytoplasm] evidence: IDA
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