rs397516347

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	Familial hypertrophic cardiomyopathy (possible)
(G;G)	0	common in clinvar

Make rs397516347(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

55154157

Gene

TNNI3

is a	snp
is	mentioned by
dbSNP	rs397516347
dbSNP (classic)	rs397516347
ClinGen	rs397516347
ebi	rs397516347
HLI	rs397516347
Exac	rs397516347
Gnomad	rs397516347
Varsome	rs397516347
LitVar	rs397516347
Map	rs397516347
PheGenI	rs397516347
Biobank	rs397516347
1000 genomes	rs397516347
hgdp	rs397516347
ensembl	rs397516347
geneview	rs397516347
scholar	rs397516347
google	rs397516347
pharmgkb	rs397516347
gwascentral	rs397516347
openSNP	rs397516347
23andMe	rs397516347
SNPshot	rs397516347
SNPdbe	rs397516347
MSV3d	rs397516347
GWAS Ctlg	rs397516347

Max Magnitude

6

aka c.422G>A (p.Arg141Gln)

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].

This variant has also been reported in a sudden cardiac death patient [PMID 31727422]

ClinVar
Risk	rs397516347(A;A)
Alt	rs397516347(A;A)
Reference	Rs397516347(G;G)
Significance	Pathogenic
Disease	not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation	info
Gene	TNNI3
CLNDBN	not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000019.9:g.55665525C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000159220.3, RCV000211743.2, RCV000465349.1,