rs45471994
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs45471994(A;A) |
| Make rs45471994(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 38613752 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45471994 |
| dbSNP (classic) | rs45471994 |
| ClinGen | rs45471994 |
| ebi | rs45471994 |
| HLI | rs45471994 |
| Exac | rs45471994 |
| Gnomad | rs45471994 |
| Varsome | rs45471994 |
| LitVar | rs45471994 |
| Map | rs45471994 |
| PheGenI | rs45471994 |
| Biobank | rs45471994 |
| 1000 genomes | rs45471994 |
| hgdp | rs45471994 |
| ensembl | rs45471994 |
| geneview | rs45471994 |
| scholar | rs45471994 |
| rs45471994 | |
| pharmgkb | rs45471994 |
| gwascentral | rs45471994 |
| openSNP | rs45471994 |
| 23andMe | rs45471994 |
| SNPshot | rs45471994 |
| SNPdbe | rs45471994 |
| MSV3d | rs45471994 |
| GWAS Ctlg | rs45471994 |
| Max Magnitude | 0 |
rs45471994, also known as Val232Ile or V232I, is a SNP in the cardiac sodium channel SCN5A gene.
Some individuals carry two mutations on the same (gene) allele, consisting of rs45471994(A) and rs41313031(A). When exposed to lidocaine, these "double mutant" individuals may develop ventricular tachycardia consistent with Brugada syndrome.[PMID 18599870
]
| ClinVar | |
|---|---|
| Risk | rs45471994(A;A) |
| Alt | rs45471994(A;A) |
| Reference | Rs45471994(G;G) |
| Significance | Other |
| Disease | Brugada syndrome 1 Brugada syndrome Brugada syndrome not specified Cardiovascular phenotype |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Brugada syndrome 1 Brugada syndrome Brugada syndrome, lidocaine-induced not specified Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38655243C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000010010.5, RCV000058840.4, RCV000148856.1, RCV000212989.3, RCV000246365.1, |
[PMID 18599870] Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel.
[PMID 20129283] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
