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rs267607129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position55151912
GeneTNNI3
is asnp
is mentioned by
dbSNPrs267607129
ebirs267607129
HLIrs267607129
Exacrs267607129
Varsomers267607129
Maprs267607129
PheGenIrs267607129
hapmaprs267607129
1000 genomesrs267607129
hgdprs267607129
ensemblrs267607129
gopubmedrs267607129
geneviewrs267607129
scholarrs267607129
googlers267607129
pharmgkbrs267607129
gwascentralrs267607129
openSNPrs267607129
23andMers267607129
23andMe allrs267607129
SNP Nexus

SNPshotrs267607129
SNPdbers267607129
MSV3drs267607129
GWAS Ctlgrs267607129
Max Magnitude0

rs267607129, also known as c.555C>G, p.Asn185Lys and N185K, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs267607129(G) allele is reported to lead to dilated cardiomyopathy, type 1FF. For more information, see OMIM 191044.0013.

This mutation is referred to as i5048706 by 23andMe. Be aware of the ambiguous strand flip since this is a C/G SNP, reported on the minus strand in SNPedia and dbSNP but on the plus strand in 23andMe.


ClinVar
Risk rs267607129(G;G)
Alt rs267607129(G;G)
Reference rs267607129(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 1FF
Variation info
Gene TNNI3
CLNDBN Dilated cardiomyopathy 1FF
Reversed 1
HGVS NC_000019.9:g.55663280G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013244.22,