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rs104894729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position55151892
GeneTNNI3
is asnp
is mentioned by
dbSNPrs104894729
ebirs104894729
HLIrs104894729
Exacrs104894729
Varsomers104894729
Maprs104894729
PheGenIrs104894729
hapmaprs104894729
1000 genomesrs104894729
hgdprs104894729
ensemblrs104894729
gopubmedrs104894729
geneviewrs104894729
scholarrs104894729
googlers104894729
pharmgkbrs104894729
gwascentralrs104894729
openSNPrs104894729
23andMers104894729
23andMe allrs104894729
SNP Nexus

SNPshotrs104894729
SNPdbers104894729
MSV3drs104894729
GWAS Ctlgrs104894729
Max Magnitude0

rs104894729, also known as c.575G>A, p.Arg192His and R192H, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs104894729(A) allele is reported to lead to familial restrictive cardiomyopathy, type 1. For more information, see OMIM 191044.0006.

This mutation is referred to as i5048716 and i5007732 by 23andMe.

OMIM191044
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894729(A,C,T;A,C,T)
Alt rs104894729(A,C,T;A,C,T)
Reference rs104894729(G;G)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not specified Familial restrictive cardiomyopathy 1 Cardiomyopathy not provided
Variation info
Gene TNNI3
CLNDBN Primary familial hypertrophic cardiomyopathy not specified Familial restrictive cardiomyopathy 1 Cardiomyopathy not provided
Reversed 1
HGVS NC_000019.9:g.55663260C>A; NC_000019.9:g.55663260C>G; NC_000019.9:g.55663260C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000154466.2, RCV000156328.1, RCV000013237.22, RCV000154212.1, RCV000157534.1, RCV000159242.2,