rs120074178
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs120074178(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2570719 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074178 |
| dbSNP (classic) | rs120074178 |
| ClinGen | rs120074178 |
| ebi | rs120074178 |
| HLI | rs120074178 |
| Exac | rs120074178 |
| Gnomad | rs120074178 |
| Varsome | rs120074178 |
| LitVar | rs120074178 |
| Map | rs120074178 |
| PheGenI | rs120074178 |
| Biobank | rs120074178 |
| 1000 genomes | rs120074178 |
| hgdp | rs120074178 |
| ensembl | rs120074178 |
| geneview | rs120074178 |
| scholar | rs120074178 |
| rs120074178 | |
| pharmgkb | rs120074178 |
| gwascentral | rs120074178 |
| openSNP | rs120074178 |
| 23andMe | rs120074178 |
| SNPshot | rs120074178 |
| SNPdbe | rs120074178 |
| MSV3d | rs120074178 |
| GWAS Ctlg | rs120074178 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs120074178(A;A) rs120074178(C;C) rs120074178(T;T) |
| Alt | rs120074178(A;A) rs120074178(C;C) rs120074178(T;T) |
| Reference | Rs120074178(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2591949G>A; NC_000011.9:g.2591949G>C; NC_000011.9:g.2591949G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003264.3, RCV000046088.4, RCV000057706.3, RCV000182086.3, RCV000229159.1, RCV000057707.3, RCV000182299.2, |
[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 20138589] A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters.
[PMID 1467812] Activity-dependent development of spinal cord motor neurons.
[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
[PMID 9386136] KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
[PMID 10728423] Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 11668638] Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.
