rs387907216
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 7 | Progressive familial heart block type 1B (Brugada syndrome) |
Make rs387907216(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 49168301 |
Gene | TRPM4 |
is a | snp |
is | mentioned by |
dbSNP | rs387907216 |
dbSNP (classic) | rs387907216 |
ClinGen | rs387907216 |
ebi | rs387907216 |
HLI | rs387907216 |
Exac | rs387907216 |
Gnomad | rs387907216 |
Varsome | rs387907216 |
LitVar | rs387907216 |
Map | rs387907216 |
PheGenI | rs387907216 |
Biobank | rs387907216 |
1000 genomes | rs387907216 |
hgdp | rs387907216 |
ensembl | rs387907216 |
geneview | rs387907216 |
scholar | rs387907216 |
rs387907216 | |
pharmgkb | rs387907216 |
gwascentral | rs387907216 |
openSNP | rs387907216 |
23andMe | rs387907216 |
SNPshot | rs387907216 |
SNPdbe | rs387907216 |
MSV3d | rs387907216 |
GWAS Ctlg | rs387907216 |
Max Magnitude | 7 |
rs387907216, also known as c.490C>T, p.Arg164Trp and R164W, 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 | rs387907216(T;T) |
Alt | rs387907216(T;T) |
Reference | Rs387907216(C;C) |
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.49671558C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000029160.2, |