rs120074190
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs120074190(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2778009 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074190 |
| dbSNP (classic) | rs120074190 |
| ClinGen | rs120074190 |
| ebi | rs120074190 |
| HLI | rs120074190 |
| Exac | rs120074190 |
| Gnomad | rs120074190 |
| Varsome | rs120074190 |
| LitVar | rs120074190 |
| Map | rs120074190 |
| PheGenI | rs120074190 |
| Biobank | rs120074190 |
| 1000 genomes | rs120074190 |
| hgdp | rs120074190 |
| ensembl | rs120074190 |
| geneview | rs120074190 |
| scholar | rs120074190 |
| rs120074190 | |
| pharmgkb | rs120074190 |
| gwascentral | rs120074190 |
| openSNP | rs120074190 |
| 23andMe | rs120074190 |
| SNPshot | rs120074190 |
| SNPdbe | rs120074190 |
| MSV3d | rs120074190 |
| GWAS Ctlg | rs120074190 |
| Max Magnitude | 5 |
aka c.1766G>A (p.Gly589Asp), G589D
This mutation in the KCNQ1 gene is considered one of four founder mutations among people from Finland associated with Long QT syndrome (LQTS).[PMID 19160088
]
23andMe name: i5004485
| ClinVar | |
|---|---|
| Risk | rs120074190(A;A) |
| Alt | rs120074190(A;A) |
| Reference | Rs120074190(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2799239G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003288.3, RCV000003289.3, RCV000057633.3, RCV000182223.3, |
[PMID 19160] [Properties of chlorotetrolic acid and its ester as possible protein acetylenic reagents].
[PMID 10483966] Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.
[PMID 11216980] A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.
[PMID 12477631] Death in bathtub revisited with molecular genetics: a victim with suicidal traits and a LQTS gene mutation.
[PMID 12690509] Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water.
[PMID 17329209] A subset of dorsal neurons modulates circadian behavior and light responses in Drosophila.
