rs120074196
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs120074196(C;C) |
| Make rs120074196(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2572057 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074196 |
| dbSNP (classic) | rs120074196 |
| ClinGen | rs120074196 |
| ebi | rs120074196 |
| HLI | rs120074196 |
| Exac | rs120074196 |
| Gnomad | rs120074196 |
| Varsome | rs120074196 |
| LitVar | rs120074196 |
| Map | rs120074196 |
| PheGenI | rs120074196 |
| Biobank | rs120074196 |
| 1000 genomes | rs120074196 |
| hgdp | rs120074196 |
| ensembl | rs120074196 |
| geneview | rs120074196 |
| scholar | rs120074196 |
| rs120074196 | |
| pharmgkb | rs120074196 |
| gwascentral | rs120074196 |
| openSNP | rs120074196 |
| 23andMe | rs120074196 |
| SNPshot | rs120074196 |
| SNPdbe | rs120074196 |
| MSV3d | rs120074196 |
| GWAS Ctlg | rs120074196 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs120074196(A;A) rs120074196(C;C) |
| Alt | rs120074196(A;A) rs120074196(C;C) |
| Reference | Rs120074196(G;G) |
| Significance | Pathogenic |
| Disease | Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Long QT syndrome 1/2 Long QT syndrome |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Long QT syndrome 1/2, digenic Long QT syndrome, LQT1 subtype |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2593287G>A; NC_000011.9:g.2593287G>C |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000046112.2, RCV000057742.3, RCV000003300.2, RCV000046114.3, RCV000057743.3, |
[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
[PMID 181742] The nature of the phosphorus linkage in component I, a phosphoprotein isolated from the blood serum of DES-treated cockerels.
[PMID 9482580] Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
[PMID 10090886
] Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 11530100] A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.
[PMID 15028050] Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.
