RGD:8622794 Rat Genome Database

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Variant: RGD:8622794 -  Homo sapiens

RGD ID: 8622794
RS ID: rs80356807
ClinVar ID: CV77818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMNA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 156,104,586
GRCh38 1 156,134,795
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_254:g.57223A>G
NG_008692.2:g.57223A>G
NC_000001.11:g.156134795A>G
NC_000001.10:g.156104586A>G
More... 		03/07/2023 intron|intron variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Cardiomyopathy, Familial Idiopathic; Charcot-Marie-Tooth, Type 2; Dilated cardiomyopathy with conduction defect; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation; Idiopathic dilated cardiomyopathy; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LMNA
Accession:NM_001407000
Location:5UTRS;INTRON

Gene Symbol:LMNA
Accession:NM_001406994
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_001406986
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406989
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001257374
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282625
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282624
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406984
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406998
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406988
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170708
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406992
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406996
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282626
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170707
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407003
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406987
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406995
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406993
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406990
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406985
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406983
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407002
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406997
Location:INTRON

Gene Symbol:LMNA
Accession:NM_005572
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406991
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15720451   PMID:25741868   PMID:28492532   PMID:28679633  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000057437 CLINVAR
  RCV001029824 CLINVAR
  RCV001221904 CLINVAR
  RCV002362690 CLINVAR
dbSNP (RS) rs80356807 CLINVAR
MedGen C0270914 CLINVAR
  C1449563 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene LMNA CLINVAR
OMIM 115200 CLINVAR
  150330 CLINVAR