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rs267607128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Familial hypertrophic cardiomyopathy, type 7
(T;T) 6 Familial hypertrophic cardiomyopathy, type 7
ReferenceGRCh38 38.1/141
Chromosome19
Position55157097
GeneTNNI3
is asnp
is mentioned by
dbSNPrs267607128
ebirs267607128
HLIrs267607128
Exacrs267607128
Varsomers267607128
Maprs267607128
PheGenIrs267607128
hapmaprs267607128
1000 genomesrs267607128
hgdprs267607128
ensemblrs267607128
gopubmedrs267607128
geneviewrs267607128
scholarrs267607128
googlers267607128
pharmgkbrs267607128
gwascentralrs267607128
openSNPrs267607128
23andMers267607128
23andMe allrs267607128
SNP Nexus

SNPshotrs267607128
SNPdbers267607128
MSV3drs267607128
GWAS Ctlgrs267607128
Max Magnitude6

rs267607128, also known as c.61C>T, p.Arg21Cys and R21C, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs267607128(T) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0016.

This mutation is referred to as i5048707 by 23andMe.


ClinVar
Risk rs267607128(T;T)
Alt rs267607128(T;T)
Reference rs267607128(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 7
Variation info
Gene TNNI3
CLNDBN Familial hypertrophic cardiomyopathy 7
Reversed 1
HGVS NC_000019.9:g.55668465G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013247.16,