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rs17221854

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome11
Position2777990
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs17221854
ebirs17221854
HLIrs17221854
Exacrs17221854
Varsomers17221854
Maprs17221854
PheGenIrs17221854
hapmaprs17221854
1000 genomesrs17221854
hgdprs17221854
ensemblrs17221854
gopubmedrs17221854
geneviewrs17221854
scholarrs17221854
googlers17221854
pharmgkbrs17221854
gwascentralrs17221854
openSNPrs17221854
23andMers17221854
23andMe allrs17221854
SNP Nexus

SNPshotrs17221854
SNPdbers17221854
MSV3drs17221854
GWAS Ctlgrs17221854
StatusDeleted
Max Magnitude4

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 23788249OA-icon.png]

OMIM607542
DescLONG QT SYNDROME 1
Variant0031
Relatedalso


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
CLNACC RCV000003291.2, RCV000003292.2, RCV000046024.3, RCV000057628.2, RCV000182219.2,



[PMID 19214780OA-icon.png] 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.