rs199473480
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) |
| Make rs199473480(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 2776006 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199473480 |
| dbSNP (classic) | rs199473480 |
| ClinGen | rs199473480 |
| ebi | rs199473480 |
| HLI | rs199473480 |
| Exac | rs199473480 |
| Gnomad | rs199473480 |
| Varsome | rs199473480 |
| LitVar | rs199473480 |
| Map | rs199473480 |
| PheGenI | rs199473480 |
| Biobank | rs199473480 |
| 1000 genomes | rs199473480 |
| hgdp | rs199473480 |
| ensembl | rs199473480 |
| geneview | rs199473480 |
| scholar | rs199473480 |
| rs199473480 | |
| pharmgkb | rs199473480 |
| gwascentral | rs199473480 |
| openSNP | rs199473480 |
| 23andMe | rs199473480 |
| SNPshot | rs199473480 |
| SNPdbe | rs199473480 |
| MSV3d | rs199473480 |
| GWAS Ctlg | rs199473480 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199473480(T;T) |
| Alt | rs199473480(T;T) |
| Reference | Rs199473480(C;C) |
| Significance | Pathogenic |
| Disease | Long QT syndrome Congenital long QT syndrome Long QT syndrome 1 not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome Congenital long QT syndrome Long QT syndrome 1 not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2797236C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000046008.3, RCV000057608.3, RCV000174453.1, RCV000182209.3, |
Associated with inherited long QT syndrome (LQTS).
[PMID 25037568
] Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.
[PMID 22581653] Paralogous annotation of disease-causing variants in long QT syndrome genes.
[PMID 19841300] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
[PMID 19808498] Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
[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 17905336] Long QT and Brugada syndrome gene mutations in New Zealand.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
[PMID 15176425] Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
[PMID 15466642] Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
