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rs77615401

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position55156239
GeneTNNI3
is asnp
is mentioned by
dbSNPrs77615401
ebirs77615401
HLIrs77615401
Exacrs77615401
Varsomers77615401
Maprs77615401
PheGenIrs77615401
hapmaprs77615401
1000 genomesrs77615401
hgdprs77615401
ensemblrs77615401
gopubmedrs77615401
geneviewrs77615401
scholarrs77615401
googlers77615401
pharmgkbrs77615401
gwascentralrs77615401
openSNPrs77615401
23andMers77615401
23andMe allrs77615401
SNP Nexus

SNPshotrs77615401
SNPdbers77615401
MSV3drs77615401
GWAS Ctlgrs77615401
GMAF0.003214
Max Magnitude0

rs77615401, also known as c.244C>T, p.Pro82Ser and P82S, represents a mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs77615401(T) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. However, the pathogenicity (and penetrance) of this mutation are not certain. The (T) allele is reportedly found in 3% of healthy African-Americans ([PMID 18175163], and OMIM reports that the authors of that study hypothesize that rs77615401(T) carriers might be at increased risk of late-onset cardiac hypertrophy.

For more information, see OMIM 191044.0003.

This mutation is referred to as i5007729 by 23andMe.

OMIM191044
Desc
Variant0003
Relatedalso
ClinVar
Risk rs77615401(A;A)
Alt rs77615401(A;A)
Reference rs77615401(G;G)
Significance Other
Disease Familial hypertrophic cardiomyopathy 7 not specified not provided Hypertrophic cardiomyopathy Cardiomyopathy
Variation info
Gene TNNI3
CLNDBN Familial hypertrophic cardiomyopathy 7 not specified not provided Hypertrophic cardiomyopathy Cardiomyopathy
Reversed 0
HGVS NC_000019.9:g.55667607G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013233.24, RCV000036277.6, RCV000224174.1, RCV000229361.1, RCV000238609.1,