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, |
