rs104894725

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	6.2	Familial Hypertrophic Cardiomyopathy
(C;C)	6	Familial hypertrophic cardiomyopathy, type 7

Reference

GRCh38 38.1/141

Chromosome

19

Position

55151851

Gene

TNNI3

is a	snp
is	mentioned by
dbSNP	rs104894725
dbSNP (classic)	rs104894725
ClinGen	rs104894725
ebi	rs104894725
HLI	rs104894725
Exac	rs104894725
Gnomad	rs104894725
Varsome	rs104894725
LitVar	rs104894725
Map	rs104894725
PheGenI	rs104894725
Biobank	rs104894725
1000 genomes	rs104894725
hgdp	rs104894725
ensembl	rs104894725
geneview	rs104894725
scholar	rs104894725
google	rs104894725
pharmgkb	rs104894725
gwascentral	rs104894725
openSNP	rs104894725
23andMe	rs104894725
SNPshot	rs104894725
SNPdbe	rs104894725
MSV3d	rs104894725
GWAS Ctlg	rs104894725

Max Magnitude

6.2

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.

OMIM	191044
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs104894725(C;C) rs104894725(G;G)
Alt	Rs104894725(C;C) rs104894725(G;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 UniProtKB (protein)
CLNACC	RCV000159250.1, RCV000013232.23,