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rs397516083

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 7 familial hypertrophic cardiomyopathy mutation
(G;G) 0 common in clinvar


Make rs397516083(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position47346379
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516083
ebirs397516083
HLIrs397516083
Exacrs397516083
Varsomers397516083
Maprs397516083
PheGenIrs397516083
hapmaprs397516083
1000 genomesrs397516083
hgdprs397516083
ensemblrs397516083
gopubmedrs397516083
geneviewrs397516083
scholarrs397516083
googlers397516083
pharmgkbrs397516083
gwascentralrs397516083
openSNPrs397516083
23andMers397516083
23andMe allrs397516083
SNP Nexus

SNPshotrs397516083
SNPdbers397516083
MSV3drs397516083
GWAS Ctlgrs397516083
Max Magnitude7

rs397516083, also known as c.927-9G>A, is a mutation in the MYBPC3 gene considered to be an autosomal dominant leading to familial hypertrophic cardiomyopathy, type 4, according to multiple sources in ClinVar.

This mutation is notable for being the third 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 rs397516083(A;A)
Alt rs397516083(A;A)
Reference rs397516083(G;G)
Significance Other
Disease Familial hypertrophic cardiomyopathy 4 not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47367930C>T
CLNSRC ClinVar
CLNACC RCV000035683.5, RCV000158321.2, RCV000208378.1,