rs41313031
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs41313031(A;A) |
| Make rs41313031(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38562456 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41313031 |
| dbSNP (classic) | rs41313031 |
| ClinGen | rs41313031 |
| ebi | rs41313031 |
| HLI | rs41313031 |
| Exac | rs41313031 |
| Gnomad | rs41313031 |
| Varsome | rs41313031 |
| LitVar | rs41313031 |
| Map | rs41313031 |
| PheGenI | rs41313031 |
| Biobank | rs41313031 |
| 1000 genomes | rs41313031 |
| hgdp | rs41313031 |
| ensembl | rs41313031 |
| geneview | rs41313031 |
| scholar | rs41313031 |
| rs41313031 | |
| pharmgkb | rs41313031 |
| gwascentral | rs41313031 |
| openSNP | rs41313031 |
| 23andMe | rs41313031 |
| SNPshot | rs41313031 |
| SNPdbe | rs41313031 |
| MSV3d | rs41313031 |
| GWAS Ctlg | rs41313031 |
| GMAF | 0.002755 |
| Max Magnitude | 0 |
rs41313031, also known as Leu1308Phe or L1308F, 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 | rs41313031(A;A) |
| Alt | rs41313031(A;A) |
| Reference | Rs41313031(G;G) |
| Significance | Pathogenic |
| Disease | Brugada syndrome 1 not provided Brugada syndrome not specified Cardiovascular phenotype Brugada syndrome |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Brugada syndrome 1 not provided Brugada syndrome, lidocaine-induced not specified Cardiovascular phenotype Brugada syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.38603947G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010010.5, RCV000058614.3, RCV000148841.1, RCV000176338.1, RCV000243761.1, RCV000458062.1, |
[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[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 18599870] Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel.
[PMID 19841300] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
[PMID 20129283] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
