rs121917761

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	5	Familial restrictive cardiomyopathy, type 1, as a possibility
(A;G)	5	Familial restrictive cardiomyopathy, type 1 as a possibility
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

19

Position

55154068

Gene

TNNI3

is a	snp
is	mentioned by
dbSNP	rs121917761
dbSNP (classic)	rs121917761
ClinGen	rs121917761
ebi	rs121917761
HLI	rs121917761
Exac	rs121917761
Gnomad	rs121917761
Varsome	rs121917761
LitVar	rs121917761
Map	rs121917761
PheGenI	rs121917761
Biobank	rs121917761
1000 genomes	rs121917761
hgdp	rs121917761
ensembl	rs121917761
geneview	rs121917761
scholar	rs121917761
google	rs121917761
pharmgkb	rs121917761
gwascentral	rs121917761
openSNP	rs121917761
23andMe	rs121917761
SNPshot	rs121917761
SNPdbe	rs121917761
MSV3d	rs121917761
GWAS Ctlg	rs121917761

Max Magnitude

5

rs121917761, also known as c.511G>A, p.Ala171Thr and A171T, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs121917761(A) allele is reported to lead to familial restrictive cardiomyopathy, type 1. For more information, see OMIM 191044.0011.

However, in ClinVar, this mutation is annotated as being of uncertain significance, as there are conflicting reports as to it's pathogenicity.

This mutation is referred to as i5007735 by 23andMe.

OMIM	191044
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs121917761(A;A)
Alt	Rs121917761(A;A)
Reference	Rs121917761(G;G)
Significance	Pathogenic
Disease	Familial restrictive cardiomyopathy 1 not specified
Variation	info
Gene	TNNI3
CLNDBN	Familial restrictive cardiomyopathy 1 not specified
Reversed	1
HGVS	NC_000019.9:g.55665436C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013242.17, RCV000168953.2,