RGD:8622730 Rat Genome Database

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Variant: RGD:8622730 -  Homo sapiens

RGD ID: 8622730
RS ID: rs267607581
ClinVar ID: CV77753
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMNA  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 156,107,442
GRCh38 1 156,137,651
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_001282625.2:c.1609-3C>G
NM_005572.4:c.1609-3C>G
LRG_254t1:c.1609-3C>G
LRG_254:g.60079C>G
More... 		09/06/2018 intron|intron variant pathogenic|likely pathogenic|not provided childhood 1-9 / 1 000 000 CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Cardiomyopathy, Familial Idiopathic; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth, Type 2; Dilated cardiomyopathy with conduction defect; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation; Hereditary ventricular hypertrophy; Idiopathic dilated cardiomyopathy; Idiopathic hypertrophic subaortic stenosis; none provided
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LMNA
Accession:NM_001282626
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406995
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406987
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001257374
Location:INTRON

Gene Symbol:LMNA
Accession:NM_005572
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407001
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406983
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406986
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406985
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282624
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406992
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406996
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406989
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170707
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406999
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406988
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407003
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406991
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407000
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406990
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170708
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406993
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406994
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282625
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406984
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407002
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406997
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406998
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8621584   PMID:9536098   PMID:17576681   PMID:18414213   PMID:18714801   PMID:24033266   PMID:24503780   PMID:25525159   PMID:25741868   PMID:28492532   PMID:28679633   PMID:32376792  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000057338 CLINVAR
  RCV000154514 CLINVAR
  RCV000503283 CLINVAR
  RCV000623500 CLINVAR
  RCV001174242 CLINVAR
  RCV001854174 CLINVAR
  RCV002390206 CLINVAR
  RCV003925019 CLINVAR
dbSNP (RS) rs267607581 CLINVAR
MedGen C0007193 CLINVAR
  C0007959 CLINVAR
  C0270914 CLINVAR
  C0949658 CLINVAR
  C1449563 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene LMNA CLINVAR
OMIM 115200 CLINVAR
  150330 CLINVAR
  192600 CLINVAR
SNOMED CT 195021004 CLINVAR
  50548001 CLINVAR
  83978005 CLINVAR