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rs397515937

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 familial hypertrophic cardiomyopathy mutation
Make rs397515937(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47339792
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515937
ebirs397515937
HLIrs397515937
Exacrs397515937
Varsomers397515937
Maprs397515937
PheGenIrs397515937
hapmaprs397515937
1000 genomesrs397515937
hgdprs397515937
ensemblrs397515937
gopubmedrs397515937
geneviewrs397515937
scholarrs397515937
googlers397515937
pharmgkbrs397515937
gwascentralrs397515937
openSNPrs397515937
23andMers397515937
23andMe allrs397515937
SNP Nexus

SNPshotrs397515937
SNPdbers397515937
MSV3drs397515937
GWAS Ctlgrs397515937
Max Magnitude6

rs397515937, also known as c.1928-2A>G, is a mutation in the MYBPC3 gene considered to be an autosomal dominant leading to familial hypertrophic cardiomyopathy, according to multiple sources in ClinVar.

This mutation was the sixth most common pathogenic variant seen in 2,912 unrelated individuals with nonsyndromic hypertrophic cardiomyopathy (HCM) presentations over a 10 year period (2004-2014) at the Partners Healthcare Personalized Medicine clinic in Boston.[PMID 25611685]


ClinVar
Risk rs397515937(G;G)
Alt rs397515937(G;G)
Reference Rs397515937(A;A)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Cardiovascular phenotype
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed 1
HGVS NC_000011.9:g.47361343T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009136.7, RCV000157326.2, RCV000158133.3, RCV000229899.1, RCV000250981.1,