Home |
Help |
Advanced search
2024-04-19 11:11:48, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001257374 2031 bp mRNA linear PRI 15-JUL-2013
DEFINITION Homo sapiens lamin A/C (LMNA), transcript variant 4, mRNA.
ACCESSION NM_001257374
VERSION NM_001257374.1 GI:383792149
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 2031)
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 2031)
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 2031)
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 2031)
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 2031)
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 2031)
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 2031)
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 2031)
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 2031)
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 2031)
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 DC400775.1, AK295390.1,
BC018863.2, AL135927.14 and AI872233.1.
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 (4) represents use of an alternate
promoter and an alternate splice site in the 3' coding region,
which results in a frameshift, compared to variant 1. It encodes
isoform D, which is a shorter and has a distinct N- and C-terminus,
compared to isoform A.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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 :: AK295390.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-10 DC400775.1 1-10
11-725 AK295390.1 1-715
726-1569 BC018863.2 42-885
1570-1709 AK295390.1 1560-1699
1710-2009 AL135927.14 27468-27767
2010-2031 AI872233.1 1-22 c
FEATURES Location/Qualifiers
source 1..2031
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q22"
gene 1..2031
/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="MIM:150330"
exon 1..64
/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"
CDS 45..1769
/gene="LMNA"
/gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
LMNL1; PRO1"
/note="isoform D is encoded by transcript variant 4; lamin
A/C-like 1; 70 kDa lamin; prelamin-A/C; renal carcinoma
antigen NY-REN-32"
/codon_start=1
/product="lamin isoform D"
/protein_id="NP_001244303.1"
/db_xref="GI:383792150"
/db_xref="CCDS:CCDS58038.1"
/db_xref="GeneID:4000"
/db_xref="HGNC:6636"
/db_xref="MIM:150330"
/translation="
MGNSEGCNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIIQEMGMRWEVEEGRRKVSLSCLP
"
misc_feature <99..842
/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 1002..1331
/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"
exon 65..221
/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 65
/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 77
/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 81
/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 102
/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 106
/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 114
/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 120
/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 127
/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 135
/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 136
/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 141
/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 146
/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 147
/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 156
/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 179
/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 183
/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 189
/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 193
/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 204
/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 205
/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 214
/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 221
/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 222..347
/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 232
/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 234
/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 256
/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 264
/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 273
/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 274..275
/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 276
/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 277
/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 278..279
/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 283
/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 293
/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 296..304
/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 315
/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 316
/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 320
/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 326
/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 330..332
/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 332..334
/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 333
/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 337
/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 348..518
/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 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="t"
/db_xref="dbSNP:61295588"
variation 353
/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 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="c"
/db_xref="dbSNP:267607584"
variation 366
/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 370
/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 372
/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 373
/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 381
/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 382
/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 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:61214927"
variation 399
/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 402
/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 403
/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 408
/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 411
/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 431
/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 438
/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 444
/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 451
/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 453
/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 454
/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 459..460
/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 483
/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 485
/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 489..491
/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 496
/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 497
/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 507
/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 508
/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 510
/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 518
/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 519..644
/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 520
/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 523..526
/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 563
/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 563
/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(569)
/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 572..575
/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 589
/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 591
/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 594
/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 600
/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 603
/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 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:267607684"
variation 606
/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 607
/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 613
/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 615
/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 616..617
/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 645..865
/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 657
/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 660
/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 666
/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 667
/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 669
/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 684
/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 698
/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 700
/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 709
/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 712
/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 715
/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 725
/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 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="c"
/db_xref="dbSNP:11549667"
variation 736
/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 747
/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 753
/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 754
/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 755
/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 756
/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 765
/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 771
/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 772..774
/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 777
/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 779
/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 780
/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 789
/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 793
/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 806
/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 817..1099
/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 820
/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 822
/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 830
/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 838..839
/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 838
/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 847
/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 850
/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 854
/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 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"
/db_xref="dbSNP:267607603"
variation 865
/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 866..1088
/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 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:267607562"
variation 870
/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 871
/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 892
/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 895
/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 897
/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 903
/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 904
/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 909
/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 910
/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 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="g"
/db_xref="dbSNP:267607647"
variation 950
/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 951
/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 970
/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 987
/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 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="g"
/db_xref="dbSNP:368831495"
variation 1002
/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 1007
/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 1011
/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 1015..1016
/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 1023
/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 1025
/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 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="g"
/db_xref="dbSNP:121912493"
variation 1031
/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 1032
/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 1045
/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(1046)
/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 1054
/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 1065
/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 1066
/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 1069
/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 1070
/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 1072
/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 1074
/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 1075
/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 1076..1078
/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 1076
/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 1078
/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 1084
/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 1089..1196
/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 1089
/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 1098
/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 1102
/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 1105
/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 1107
/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 1114
/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 1119
/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 1120
/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 1132..1133
/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 1149
/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 1151
/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 1152
/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 1153
/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 1166
/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 1170
/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 1182
/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 1185
/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 1195
/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 1196
/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 1197..1316
/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 1200
/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 1201
/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 1202
/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 1204
/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 1220..1221
/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 1224
/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 1234..1235
/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 1238
/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 1243
/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 1259
/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 1266
/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 1267
/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 1274
/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 1275
/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 1287..1288
/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 1287
/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 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="c"
/replace="g"
/db_xref="dbSNP:57520892"
variation 1291
/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 1292
/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 1293
/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 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:60580541"
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="t"
/db_xref="dbSNP:60934003"
variation 1309
/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 1317..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 1327
/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 1329
/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 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="c"
/replace="g"
/db_xref="dbSNP:61444459"
variation 1334
/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 1341
/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 1342
/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 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:201947393"
variation 1364
/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 1365
/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 1368
/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 1370
/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 1372
/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 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:17847249"
variation 1406
/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"
exon 1407..1676
/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 1426
/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:60890628"
variation 1441
/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:61224243"
variation 1453
/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:57830985"
variation 1456
/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:59601651"
variation 1459
/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:56657623"
variation 1469
/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:80356813"
variation 1470
/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:267607621"
variation 1473
/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:372201662"
variation 1480
/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:267607556"
variation 1498..1499
/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:34195769"
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:267607604"
variation 1512
/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:60662302"
variation 1529
/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:59886214"
variation 1530
/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:61064130"
variation 1532
/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:58596362"
variation 1545
/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:147627124"
variation 1559
/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:143189394"
variation 1565
/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:368581237"
variation 1576
/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:59267781"
variation 1578
/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:140455668"
variation 1579
/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:13768"
variation 1585
/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:138208127"
variation 1600
/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:267607648"
variation 1612
/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:267607612"
variation 1616
/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:80356814"
variation 1619
/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:117939448"
variation 1620
/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:144851946"
variation 1638
/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:142000963"
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:368386019"
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:3209857"
variation 1668
/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:267607544"
variation 1672..1673
/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:267607566"
exon 1677..1699
/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 1686
/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:374926367"
exon 1700..2019
/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"
STS 1745..1861
/gene="LMNA"
/gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
LMNL1; PRO1"
/standard_name="D20S1027"
/db_xref="UniSTS:55344"
variation 1775
/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:3204564"
variation 1777
/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:371251854"
variation 1783
/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:189656652"
variation 1880
/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:144299350"
variation 1935
/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:375604123"
variation 1951
/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:15292"
polyA_site 2019
/gene="LMNA"
/gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
LMNL1; PRO1"
ORIGIN
gagaccctctgctcttctgctcccttcctgtgtgctgcctggcaatggggaactctgagggctgcaataccaagaaggagggtgacctgatagctgctcaggctcggctgaaggacctggaggctctgctgaactccaaggaggccgcactgagcactgctctcagtgagaagcgcacgctggagggcgagctgcatgatctgcggggccaggtggccaagcttgaggcagccctaggtgaggccaagaagcaacttcaggatgagatgctgcggcgggtggatgctgagaacaggctgcagaccatgaaggaggaactggacttccagaagaacatctacagtgaggagctgcgtgagaccaagcgccgtcatgagacccgactggtggagattgacaatgggaagcagcgtgagtttgagagccggctggcggatgcgctgcaggaactgcgggcccagcatgaggaccaggtggagcagtataagaaggagctggagaagacttattctgccaagctggacaatgccaggcagtctgctgagaggaacagcaacctggtgggggctgcccacgaggagctgcagcagtcgcgcatccgcatcgacagcctctctgcccagctcagccagctccagaagcagctggcagccaaggaggcgaagcttcgagacctggaggactcactggcccgtgagcgggacaccagccggcggctgctggcggaaaaggagcgggagatggccgagatgcgggcaaggatgcagcagcagctggacgagtaccaggagcttctggacatcaagctggccctggacatggagatccacgcctaccgcaagctcttggagggcgaggaggagaggctacgcctgtcccccagccctacctcgcagcgcagccgtggccgtgcttcctctcactcatcccagacacagggtgggggcagcgtcaccaaaaagcgcaaactggagtccactgagagccgcagcagcttctcacagcacgcacgcactagcgggcgcgtggccgtggaggaggtggatgaggagggcaagtttgtccggctgcgcaacaagtccaatgaggaccagtccatgggcaattggcagatcaagcgccagaatggagatgatcccttgctgacttaccggttcccaccaaagttcaccctgaaggctgggcaggtggtgacgatctgggctgcaggagctggggccacccacagcccccctaccgacctggtgtggaaggcacagaacacctggggctgcgggaacagcctgcgtacggctctcatcaactccactggggaagaagtggccatgcgcaagctggtgcgctcagtgactgtggttgaggacgacgaggatgaggatggagatgacctgctccatcaccaccacggctcccactgcagcagctcgggggaccccgctgagtacaacctgcgctcgcgcaccgtgctgtgcgggacctgcgggcagcctgccgacaaggcatctgccagcggctcaggagcccaggtgggcggacccatctcctctggctcttctgcctccagtgtcacggtcactcgcagctaccgcagtgtggggggcagtgggggtggcagcttcggggacaatctggtcacccgctcctacctcctgggcaactccagcccccgaacccagagcccccagaactgcagcatcatacaagagatgggaatgaggtgggaggtggaagaagggagaagaaaggtgagtttgagctgccttccctagctttagaccctgggtgggctctgtgcagtcactggaggttgaagccaagtggggtgctgggaggagggagagggaggtcactggaaaggggagagcctgctggcacccaccgtggaggaggaaggcaagagggggtggaggggtgtggcagtggttttggcaaacgctaaagagcccttgcctccccatttcccatctgcaccccttctctcctccccaaatcaatacactagttgtttctacccctggcaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.