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rs267607127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position55151860
GeneTNNI3
is asnp
is mentioned by
dbSNPrs267607127
ebirs267607127
HLIrs267607127
Exacrs267607127
Varsomers267607127
Maprs267607127
PheGenIrs267607127
hapmaprs267607127
1000 genomesrs267607127
hgdprs267607127
ensemblrs267607127
gopubmedrs267607127
geneviewrs267607127
scholarrs267607127
googlers267607127
pharmgkbrs267607127
gwascentralrs267607127
openSNPrs267607127
23andMers267607127
23andMe allrs267607127
SNP Nexus

SNPshotrs267607127
SNPdbers267607127
MSV3drs267607127
GWAS Ctlgrs267607127
Max Magnitude0

rs267607127, also known as c.607G>A, p.Gly203Ser and G203S, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs267607127(A) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0014.

This mutation is referred to as i5007738 by 23andMe.


ClinVar
Risk rs267607127(A;A)
Alt rs267607127(A;A)
Reference rs267607127(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 7
Variation info
Gene TNNI3
CLNDBN Familial hypertrophic cardiomyopathy 7
Reversed 1
HGVS NC_000019.9:g.55663228C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013245.24,