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rs121917761

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position55154068
GeneTNNI3
is asnp
is mentioned by
dbSNPrs121917761
ebirs121917761
HLIrs121917761
Exacrs121917761
Varsomers121917761
Maprs121917761
PheGenIrs121917761
hapmaprs121917761
1000 genomesrs121917761
hgdprs121917761
ensemblrs121917761
gopubmedrs121917761
geneviewrs121917761
scholarrs121917761
googlers121917761
pharmgkbrs121917761
gwascentralrs121917761
openSNPrs121917761
23andMers121917761
23andMe allrs121917761
SNP Nexus

SNPshotrs121917761
SNPdbers121917761
MSV3drs121917761
GWAS Ctlgrs121917761
Max Magnitude0

rs121917761, also known as c.511G>A, p.Ala171Thr and A171T, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs121917761(A) allele is reported to lead to familial restrictive cardiomyopathy, type 1. For more information, see OMIM 191044.0011.

However, in ClinVar, this mutation is annotated as being of uncertain significance, as there are conflicting reports as to it's pathogenicity.

This mutation is referred to as i5007735 by 23andMe.

OMIM191044
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121917761(A;A)
Alt rs121917761(A;A)
Reference rs121917761(G;G)
Significance Pathogenic
Disease Familial restrictive cardiomyopathy 1 not specified
Variation info
Gene TNNI3
CLNDBN Familial restrictive cardiomyopathy 1 not specified
Reversed 1
HGVS NC_000019.9:g.55665436C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013242.16, RCV000168953.1,