rs172151858

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	7	Progressive familial heart block type 1B (Brugada syndrome)

Make rs172151858(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

49200395

Gene

TRPM4

is a	snp
is	mentioned by
dbSNP	rs172151858
dbSNP (classic)	rs172151858
ClinGen	rs172151858
ebi	rs172151858
HLI	rs172151858
Exac	rs172151858
Gnomad	rs172151858
Varsome	rs172151858
LitVar	rs172151858
Map	rs172151858
PheGenI	rs172151858
Biobank	rs172151858
1000 genomes	rs172151858
hgdp	rs172151858
ensembl	rs172151858
geneview	rs172151858
scholar	rs172151858
google	rs172151858
pharmgkb	rs172151858
gwascentral	rs172151858
openSNP	rs172151858
23andMe	rs172151858
SNPshot	rs172151858
SNPdbe	rs172151858
MSV3d	rs172151858
GWAS Ctlg	rs172151858

Max Magnitude

7

rs172151858, also known as c.2741A>G, p.Lys914Arg and K914R, represents a rare mutation in the TRPM4 gene.

The minor allele is considered causative in a dominant manner for progressive familial heart block type 1B in ClinVar.

ClinVar
Risk	rs172151858(G;G)
Alt	rs172151858(G;G)
Reference	Rs172151858(A;A)
Significance	Pathogenic
Disease	Progressive familial heart block type 1B
Variation	info
Gene	TRPM4
CLNDBN	Progressive familial heart block type 1B
Reversed	0
HGVS	NC_000019.9:g.49703652A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000029162.2,