RGD:28890643 Rat Genome Database

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Variant: RGD:28890643 -  Homo sapiens

RGD ID: 28890643
RS ID: rs1649747809
ClinVar ID: CV864995
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMNA  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 156,085,077
GRCh38 1 156,115,286
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282626.2:c.356+12C>A
NC_000001.11:g.156115286C>A
NM_170707.4:c.356+12C>A
LRG_254:g.37714C>A
More... 		02/02/2018 intron variant uncertain significance 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; 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; 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_001406995
Location:5UTRS;INTRON

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

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

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

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

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

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

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

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

Gene Symbol:LMNA
Accession:NM_001406986
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_005572
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406998
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282624
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170707
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170708
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406991
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406996
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406988
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001257374
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282625
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406989
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406985
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282626
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406984
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406992
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406983
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406987
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406997
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001099883 CLINVAR
  RCV001099884 CLINVAR
  RCV001099885 CLINVAR
  RCV001099886 CLINVAR
  RCV001099887 CLINVAR
  RCV001099888 CLINVAR
  RCV001101874 CLINVAR
  RCV001101875 CLINVAR
  RCV001101876 CLINVAR
  RCV001101877 CLINVAR
dbSNP (RS) rs1649747809 CLINVAR
MedGen C0033300 CLINVAR
  C0406585 CLINVAR
  C0410189 CLINVAR
  C0410190 CLINVAR
  C1449563 CLINVAR
  C1720860 CLINVAR
  C1854154 CLINVAR
  C2750785 CLINVAR
  C5399785 CLINVAR
  CN239184 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