rs267607142

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 rs267607142(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

49157885

Gene

TRPM4

is a	snp
is	mentioned by
dbSNP	rs267607142
dbSNP (classic)	rs267607142
ClinGen	rs267607142
ebi	rs267607142
HLI	rs267607142
Exac	rs267607142
Gnomad	rs267607142
Varsome	rs267607142
LitVar	rs267607142
Map	rs267607142
PheGenI	rs267607142
Biobank	rs267607142
1000 genomes	rs267607142
hgdp	rs267607142
ensembl	rs267607142
geneview	rs267607142
scholar	rs267607142
google	rs267607142
pharmgkb	rs267607142
gwascentral	rs267607142
openSNP	rs267607142
23andMe	rs267607142
SNPshot	rs267607142
SNPdbe	rs267607142
MSV3d	rs267607142
GWAS Ctlg	rs267607142

Max Magnitude

7

rs267607142, also known as c.19G>A, p.Glu7Lys and E7K, 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	rs267607142(A;A)
Alt	rs267607142(A;A)
Reference	Rs267607142(G;G)
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.49661142G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003968.2,