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rs397516074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 familial hypertrophic cardiomyopathy mutation
(G;G) 0 common in clinvar


Make rs397516074(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position47348424
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516074
ebirs397516074
HLIrs397516074
Exacrs397516074
Varsomers397516074
Maprs397516074
PheGenIrs397516074
hapmaprs397516074
1000 genomesrs397516074
hgdprs397516074
ensemblrs397516074
gopubmedrs397516074
geneviewrs397516074
scholarrs397516074
googlers397516074
pharmgkbrs397516074
gwascentralrs397516074
openSNPrs397516074
23andMers397516074
23andMe allrs397516074
SNP Nexus

SNPshotrs397516074
SNPdbers397516074
MSV3drs397516074
GWAS Ctlgrs397516074
Max Magnitude6

rs397516074, also known as c.772G>A and p.Glu258Lys, 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 fifth 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]

Note: 23andMe refers to this SNP as i5046177.

ClinVar
Risk rs397516074(A;A)
Alt rs397516074(A;A)
Reference rs397516074(G;G)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47369975C>T
CLNSRC ClinVar
CLNACC RCV000035668.5, RCV000158310.2, RCV000161125.5, RCV000205517.2,