rs12720459
| Long QT syndrome |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | ||
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | LQT1 form of Long QT syndrome |
| (T;T) | 5 | LQT1 form of Long QT syndrome |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2583535 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12720459 |
| dbSNP (classic) | rs12720459 |
| ClinGen | rs12720459 |
| ebi | rs12720459 |
| HLI | rs12720459 |
| Exac | rs12720459 |
| Gnomad | rs12720459 |
| Varsome | rs12720459 |
| LitVar | rs12720459 |
| Map | rs12720459 |
| PheGenI | rs12720459 |
| Biobank | rs12720459 |
| 1000 genomes | rs12720459 |
| hgdp | rs12720459 |
| ensembl | rs12720459 |
| geneview | rs12720459 |
| scholar | rs12720459 |
| rs12720459 | |
| pharmgkb | rs12720459 |
| gwascentral | rs12720459 |
| openSNP | rs12720459 |
| 23andMe | rs12720459 |
| SNPshot | rs12720459 |
| SNPdbe | rs12720459 |
| MSV3d | rs12720459 |
| GWAS Ctlg | rs12720459 |
| Status | Deleted |
| Max Magnitude | 5 |
rs12720459, known also as Ala341Val and formerly as Ala212Val and Ala246Val, is a SNP in the potassium voltage-gated channel, KQT-like subfamily, member 1 KCNQ1 gene.
This SNP, specifically rs12720459(T), represents one of the most common mutations within the KCNQ1 gene leading to LQT1, the most common form of Long QT syndrome. LQT1 is one of the less severe forms of Long QT syndrome.
see OMIM 607542.0010
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs12720459(A;A) rs12720459(G;G) Rs12720459(T;T) |
| Alt | Rs12720459(A;A) rs12720459(G;G) Rs12720459(T;T) |
| Reference | Rs12720459(C;C) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 1 Long QT syndrome 1/2 Long QT syndrome Congenital long QT syndrome not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome 1 Long QT syndrome 1/2, digenic Long QT syndrome Congenital long QT syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2604765C>A; NC_000011.9:g.2604765C>G; NC_000011.9:g.2604765C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003267.2, RCV000003268.2, RCV000045932.3, RCV000057526.3, RCV000182154.2, RCV000057527.3, RCV000182145.2, RCV000003269.3, RCV000057528.5, RCV000171124.2, |
[PMID 19214780
] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
[PMID 8818942] Evidence of a long QT founder gene with varying phenotypic expression in South African families.
[PMID 8872472] KVLQT1 mutations in three families with familial or sporadic long QT syndrome.
[PMID 9386136] KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
[PMID 9570196] New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
[PMID 179843] Plasticity of the hormone receptors and possibility of their deformation in neonatal age.
[PMID 10086971] C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.
[PMID 12702160] KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.
[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
