rs17221854
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | increased susceptibility to long QT syndrome |
| (T;T) | 4 | increased susceptibility to long QT syndrome |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2777990 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17221854 |
| dbSNP (classic) | rs17221854 |
| ClinGen | rs17221854 |
| ebi | rs17221854 |
| HLI | rs17221854 |
| Exac | rs17221854 |
| Gnomad | rs17221854 |
| Varsome | rs17221854 |
| LitVar | rs17221854 |
| Map | rs17221854 |
| PheGenI | rs17221854 |
| Biobank | rs17221854 |
| 1000 genomes | rs17221854 |
| hgdp | rs17221854 |
| ensembl | rs17221854 |
| geneview | rs17221854 |
| scholar | rs17221854 |
| rs17221854 | |
| pharmgkb | rs17221854 |
| gwascentral | rs17221854 |
| openSNP | rs17221854 |
| 23andMe | rs17221854 |
| SNPshot | rs17221854 |
| SNPdbe | rs17221854 |
| MSV3d | rs17221854 |
| GWAS Ctlg | rs17221854 |
| Status | Deleted |
| Max Magnitude | 4 |
rs17221854, also known as Arg583Cys or R583C, is a SNP in the KCNQ1 gene on chromosome 11.
The rs17221854(T) allele has been reported as associated with long QT syndrome.[PMID 10973849]
Additionally, a person who developed QT prolongation and torsade de pointes while taking the drug dofetilide carried this (T) allele, leading the authors to hypothesize that this mutation was responsible for the patient's drug response.[PMID 11997281]
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249
]
| ClinVar | |
|---|---|
| Risk | Rs17221854(T;T) |
| Alt | Rs17221854(T;T) |
| Reference | Rs17221854(C;C) |
| Significance | Other |
| Disease | Long QT syndrome 1 Acquired susceptibility to long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome 1 Acquired susceptibility to long QT syndrome 1 Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2799220C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003291.3, RCV000003292.3, RCV000046024.3, RCV000057628.3, RCV000182219.2, |
[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 11997281] Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
[PMID 14760488] Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
