rs137854604
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | possibility of idiopathic ventricular fibrillation |
| (T;T) | 3 | possibility of idiopathic ventricular fibrillation |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38551243 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854604 |
| dbSNP (classic) | rs137854604 |
| ClinGen | rs137854604 |
| ebi | rs137854604 |
| HLI | rs137854604 |
| Exac | rs137854604 |
| Gnomad | rs137854604 |
| Varsome | rs137854604 |
| LitVar | rs137854604 |
| Map | rs137854604 |
| PheGenI | rs137854604 |
| Biobank | rs137854604 |
| 1000 genomes | rs137854604 |
| hgdp | rs137854604 |
| ensembl | rs137854604 |
| geneview | rs137854604 |
| scholar | rs137854604 |
| rs137854604 | |
| pharmgkb | rs137854604 |
| gwascentral | rs137854604 |
| openSNP | rs137854604 |
| 23andMe | rs137854604 |
| SNPshot | rs137854604 |
| SNPdbe | rs137854604 |
| MSV3d | rs137854604 |
| GWAS Ctlg | rs137854604 |
| Max Magnitude | 3 |
A publication has reported that the minor (and quite rare) T allele of rs137854604 was seen in a 39-year-old Japanese patient who was admitted to the hospital for recurrent syncope and suffered an episode of spontaneous ventricular fibrillation while hospitalized. The patient did not have typical ECG findings of Brugada syndrome.[PMID 10940383]
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249
]
| ClinVar | |
|---|---|
| Risk | Rs137854604(T;T) |
| Alt | Rs137854604(T;T) |
| Reference | Rs137854604(C;C) |
| Significance | Other |
| Disease | Paroxysmal familial ventricular fibrillation 1 Ventricular fibrillation not provided Brugada syndrome 1 Cardiovascular phenotype |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Paroxysmal familial ventricular fibrillation 1 Ventricular fibrillation not provided Brugada syndrome 1 Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38592734G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009981.3, RCV000058743.3, RCV000183102.2, RCV000197520.1, RCV000246596.1, |
[PMID 11827685] A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease.
[PMID 17141278] A novel mutation in the SCN5A gene is associated with Brugada syndrome.
