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rs104894725

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position55151851
GeneTNNI3
is asnp
is mentioned by
dbSNPrs104894725
ebirs104894725
HLIrs104894725
Exacrs104894725
Varsomers104894725
Maprs104894725
PheGenIrs104894725
hapmaprs104894725
1000 genomesrs104894725
hgdprs104894725
ensemblrs104894725
gopubmedrs104894725
geneviewrs104894725
scholarrs104894725
googlers104894725
pharmgkbrs104894725
gwascentralrs104894725
openSNPrs104894725
23andMers104894725
23andMe allrs104894725
SNP Nexus

SNPshotrs104894725
SNPdbers104894725
MSV3drs104894725
GWAS Ctlgrs104894725
Max Magnitude0

rs104894725, also known as c.616A>C, p.Lys206Gln and K206Q, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs104894725(C) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0002.

This mutation is referred to as i5007728 by 23andMe.

OMIM191044
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894725(C,G;C,G)
Alt rs104894725(C,G;C,G)
Reference rs104894725(A;A)
Significance Pathogenic
Disease not provided Familial hypertrophic cardiomyopathy 7
Variation info
Gene TNNI3
CLNDBN not provided Familial hypertrophic cardiomyopathy 7
Reversed 1
HGVS NC_000019.9:g.55663219T>C; NC_000019.9:g.55663219T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000159250.1, RCV000013232.22,