Gene: KCNQ1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12720459
rs12720459
KCNQ1
T 0.770 CausalMutation CLINVAR Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit. 21854832

2011
dbSNP: rs12720459
rs12720459
KCNQ1
A 0.770 CausalMutation CLINVAR In a South African (SA) founder population, we identified a common LQTS type 1 (LQT1)-causing mutation (KCNQ1-A341V) associated with high clinical severity. 17984373

2007
dbSNP: rs12720459
rs12720459
KCNQ1
T 0.770 CausalMutation CLINVAR Phenotype reveals genotype in a Greek long QT syndrome family. 16627448

2006
dbSNP: rs12720459
rs12720459
KCNQ1
T 0.770 CausalMutation CLINVAR Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. 16246960

2005
dbSNP: rs12720459
rs12720459
KCNQ1
A 0.770 CausalMutation CLINVAR Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome. 15028050

2004
dbSNP: rs12720459
rs12720459
KCNQ1
T 0.770 CausalMutation CLINVAR Functional effects of mutations in KvLQT1 that cause long QT syndrome. 10376919

1999
dbSNP: rs12720459
rs12720459
KCNQ1
T 0.770 CausalMutation CLINVAR C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. 10086971

1999
dbSNP: rs12720459
rs12720459
KCNQ1
A 0.770 CausalMutation CLINVAR Functional effects of mutations in KvLQT1 that cause long QT syndrome. 10376919

1999
dbSNP: rs12720459
rs12720459
KCNQ1
T 0.770 CausalMutation CLINVAR Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244

1996
dbSNP: rs151344631
rs151344631
KCNQ1
A 0.730 CausalMutation CLINVAR Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 29033053

2018
dbSNP: rs120074190
rs120074190
KCNQ1
A 0.730 CausalMutation CLINVAR One of the most common and potentially life-threatening electrolyte disturbances is hypokalemia, characterized by low concentrations of K<sup>+</sup> Using a multielectrode array platform and current clamp technique, we investigated the effect of low extracellular K<sup>+</sup> concentration ([K<sup>+</sup>]<sub>Ex</sub>) on the electrophysiological properties of hiPSC-derived cardiomyocytes (CMs) generated from a healthy control subject (WT) and from two symptomatic patients with type 1 of LQTS carrying G589D (LQT1A) or IVS7-2A>G mutation (LQT1B) in <i>KCNQ1</i> The baseline prolongations of field potential durations (FPDs) and action potential durations (APDs) were longer in LQT1-CMs than in WT-CMs. 28619993

2017
dbSNP: rs151344631
rs151344631
KCNQ1
A 0.730 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs120074190
rs120074190
KCNQ1
A 0.730 CausalMutation CLINVAR LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms. 25344363

2014
dbSNP: rs151344631
rs151344631
KCNQ1
A 0.730 CausalMutation CLINVAR Given the lack of prelingual deafness the homozygous V205M LQTS patients present with a phenotype more typical of RWS than JLNS. 23844633

2014
dbSNP: rs151344631
rs151344631
KCNQ1
A 0.730 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs120074190
rs120074190
KCNQ1
A 0.730 CausalMutation CLINVAR Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1. 22095730

2012
dbSNP: rs120074190
rs120074190
KCNQ1
A 0.730 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067

2012
dbSNP: rs120074190
rs120074190
KCNQ1
A 0.730 CausalMutation CLINVAR Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. 22629021

2012
dbSNP: rs120074190
rs120074190
KCNQ1
A 0.730 CausalMutation CLINVAR A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome. 20659946

2010
dbSNP: rs120074190
rs120074190
KCNQ1
A 0.730 CausalMutation CLINVAR High prevalence of four long QT syndrome founder mutations in the Finnish population. 19160088

2009
dbSNP: rs151344631
rs151344631
KCNQ1
A 0.730 CausalMutation CLINVAR A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. 18580685

2008
dbSNP: rs120074190
rs120074190
KCNQ1
A 0.730 CausalMutation CLINVAR A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. 11216980

2001
dbSNP: rs120074190
rs120074190
KCNQ1
A 0.730 CausalMutation CLINVAR Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. 10483966

1999
dbSNP: rs120074189
rs120074189
KCNQ1
T 0.720 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.720 CausalMutation CLINVAR Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. 25705178

2015