rs137854602
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs137854602(C;T) |
| Make rs137854602(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38555664 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854602 |
| dbSNP (classic) | rs137854602 |
| ClinGen | rs137854602 |
| ebi | rs137854602 |
| HLI | rs137854602 |
| Exac | rs137854602 |
| Gnomad | rs137854602 |
| Varsome | rs137854602 |
| LitVar | rs137854602 |
| Map | rs137854602 |
| PheGenI | rs137854602 |
| Biobank | rs137854602 |
| 1000 genomes | rs137854602 |
| hgdp | rs137854602 |
| ensembl | rs137854602 |
| geneview | rs137854602 |
| scholar | rs137854602 |
| rs137854602 | |
| pharmgkb | rs137854602 |
| gwascentral | rs137854602 |
| openSNP | rs137854602 |
| 23andMe | rs137854602 |
| SNPshot | rs137854602 |
| SNPdbe | rs137854602 |
| MSV3d | rs137854602 |
| GWAS Ctlg | rs137854602 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854602(T;T) |
| Alt | rs137854602(T;T) |
| Reference | Rs137854602(C;C) |
| Significance | Other |
| Disease | Brugada syndrome 1 not provided Primary familial hypertrophic cardiomyopathy not specified Brugada syndrome |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Brugada syndrome 1 not provided Primary familial hypertrophic cardiomyopathy not specified Brugada syndrome |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38597155G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009977.5, RCV000058688.5, RCV000157490.1, RCV000222521.1, RCV000456844.1, |
[PMID 20129] Molecular mechanism of the cardiotoxic action of a polypeptide neurotoxin from sea anemone on cultured embryonic cardiac cells.
[PMID 10690282] Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.
[PMID 10727653] Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.
[PMID 15851227] Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.
[PMID 19251209] Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
[PMID 19841300
] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
