RGD:11644331 Rat Genome Database

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Variant: RGD:11644331 -  Homo sapiens

RGD ID: 11644331
RS ID: rs886045365
ClinVar ID: CV277453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMNA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 156,104,183
GRCh38 1 156,134,392
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_005572.3:c.514-11C>T
NM_001257374.3:c.178-11C>T
NM_001282626.2:c.514-11C>T
NM_170707.4:c.514-11C>T
More... 		06/06/2018 intron variant likely benign|uncertain significance antenatal|infancy <1 / 1 000 000 Benign scapuloperoneal muscular dystrophy with cardiomyopathy; CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Cardiomyopathy, Familial Idiopathic; Charcot-Marie-Tooth disease, axonal, Type 2B1; Charcot-Marie-Tooth disease, neuronal, Type 2B1; Charcot-Marie-Tooth Neuropathy Type 2B1; Charcot-Marie-Tooth, Type 2; CMT 2B1; Congenital muscular dystrophy, LMNA-related; CRANIOMANDIBULAR DERMATODYSOSTOSIS; Dilated cardiomyopathy with conduction defect; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation; Familial partial lipodystrophy 2; Fetal hypokinesia sequence due to restrictive dermopathy; HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY; Humeroperoneal neuromuscular disease, (formerly); Hyperkeratosis-contracture syndrome; Idiopathic dilated cardiomyopathy; Lamin A-related Congenital Muscular Dystrophy; Limb-girdle muscular dystrophy, type 1B; Lipodystrophy, familial, of limbs and lower trunk; Lipodystrophy, reverse partial; Lipodystrophy, type A, associated with mandibuloacral dysplasia; LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal; MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT; MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B; Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; none provided; Partial lipodystrophy, Dunnigan; Progerin-producing progeroid laminopathy; Restrictive dermopathy; Restrictive dermopathy, lethal; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY; Scapuloperoneal syndrome, X-linked (formerly)

Variant Details
Variant Transcripts
Gene Symbol:LMNA
Accession:NM_001406997
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_001406999
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_001406990
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_001406993
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_001407001
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_001406994
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_001407000
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_001406995
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_001407002
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_001407003
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_001406996
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_170707
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406988
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406984
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406989
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406992
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406987
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282624
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406986
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170708
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001257374
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406983
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406998
Location:INTRON

Gene Symbol:LMNA
Accession:NM_005572
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406985
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282625
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406991
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282626
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000259634 CLINVAR
  RCV000271579 CLINVAR
  RCV000277232 CLINVAR
  RCV000312526 CLINVAR
  RCV000319234 CLINVAR
  RCV000338954 CLINVAR
  RCV000366122 CLINVAR
  RCV000367228 CLINVAR
  RCV000372986 CLINVAR
  RCV000373949 CLINVAR
  RCV000828218 CLINVAR
  RCV001096563 CLINVAR
  RCV002061154 CLINVAR
dbSNP (RS) rs886045365 CLINVAR
MedGen C0033300 CLINVAR
  C0270914 CLINVAR
  C0406585 CLINVAR
  C0410189 CLINVAR
  C0410190 CLINVAR
  C1449563 CLINVAR
  C1720860 CLINVAR
  C1854154 CLINVAR
  C2750785 CLINVAR
  C3661900 CLINVAR
  C5399785 CLINVAR
  CN239184 CLINVAR
  CN239352 CLINVAR
NCBI Gene LMNA CLINVAR
OMIM 115200 CLINVAR
  150330 CLINVAR
  151660 CLINVAR
  176670 CLINVAR
  181350 CLINVAR
  248370 CLINVAR
  605588 CLINVAR
  613205 CLINVAR
SNOMED CT 111508004 CLINVAR
  238870004 CLINVAR
  400128006 CLINVAR