rs267607129

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	6.2	Familial Hypertrophic Cardiomyopathy
(G;G)	6	Dilated cardiomyopathy, type 1FF

Reference

GRCh38 38.1/141

Chromosome

19

Position

55151912

Gene

TNNI3

is a	snp
is	mentioned by
dbSNP	rs267607129
dbSNP (classic)	rs267607129
ClinGen	rs267607129
ebi	rs267607129
HLI	rs267607129
Exac	rs267607129
Gnomad	rs267607129
Varsome	rs267607129
LitVar	rs267607129
Map	rs267607129
PheGenI	rs267607129
Biobank	rs267607129
1000 genomes	rs267607129
hgdp	rs267607129
ensembl	rs267607129
geneview	rs267607129
scholar	rs267607129
google	rs267607129
pharmgkb	rs267607129
gwascentral	rs267607129
openSNP	rs267607129
23andMe	rs267607129
SNPshot	rs267607129
SNPdbe	rs267607129
MSV3d	rs267607129
GWAS Ctlg	rs267607129

Max Magnitude

6.2

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 UniProtKB (protein)
CLNACC	RCV000013244.23,