rs201907325

Orientation

plus

Stabilized

plus

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

Make rs201907325(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

49182608

Gene

TRPM4

is a	snp
is	mentioned by
dbSNP	rs201907325
dbSNP (classic)	rs201907325
ClinGen	rs201907325
ebi	rs201907325
HLI	rs201907325
Exac	rs201907325
Gnomad	rs201907325
Varsome	rs201907325
LitVar	rs201907325
Map	rs201907325
PheGenI	rs201907325
Biobank	rs201907325
1000 genomes	rs201907325
hgdp	rs201907325
ensembl	rs201907325
geneview	rs201907325
scholar	rs201907325
google	rs201907325
pharmgkb	rs201907325
gwascentral	rs201907325
openSNP	rs201907325
23andMe	rs201907325
SNPshot	rs201907325
SNPdbe	rs201907325
MSV3d	rs201907325
GWAS Ctlg	rs201907325

GMAF

0.0009183

Max Magnitude

7

rs201907325, also known as c.1294G>A, p.Ala432Thr and A432T, 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	rs201907325(A;A)
Alt	rs201907325(A;A)
Reference	Rs201907325(G;G)
Significance	Other
Disease	Progressive familial heart block type 1B Brugada syndrome not specified
Variation	info
Gene	TRPM4
CLNDBN	Progressive familial heart block type 1B Brugada syndrome not specified
Reversed	0
HGVS	NC_000019.9:g.49685865G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000029159.5, RCV000208441.1, RCV000443394.1,