|
rs12720459
|
|
Long QT Syndrome
|
T |
0.770 |
CausalMutation
|
CLINVAR |
Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit.
|
21854832 |
2011 |
|
rs12720459
|
|
Long QT Syndrome
|
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 |
|
rs12720459
|
|
Long QT Syndrome
|
T |
0.770 |
CausalMutation
|
CLINVAR |
Phenotype reveals genotype in a Greek long QT syndrome family.
|
16627448 |
2006 |
|
rs12720459
|
|
Long QT Syndrome
|
T |
0.770 |
CausalMutation
|
CLINVAR |
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.
|
16246960 |
2005 |
|
rs12720459
|
|
Long QT Syndrome
|
A |
0.770 |
CausalMutation
|
CLINVAR |
Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.
|
15028050 |
2004 |
|
rs12720459
|
|
Long QT Syndrome
|
T |
0.770 |
CausalMutation
|
CLINVAR |
Functional effects of mutations in KvLQT1 that cause long QT syndrome.
|
10376919 |
1999 |
|
rs12720459
|
|
Long QT Syndrome
|
T |
0.770 |
CausalMutation
|
CLINVAR |
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.
|
10086971 |
1999 |
|
rs12720459
|
|
Long QT Syndrome
|
A |
0.770 |
CausalMutation
|
CLINVAR |
Functional effects of mutations in KvLQT1 that cause long QT syndrome.
|
10376919 |
1999 |
|
rs12720459
|
|
Long QT Syndrome
|
T |
0.770 |
CausalMutation
|
CLINVAR |
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
|
8528244 |
1996 |
|
rs1805128
|
|
Long QT Syndrome
|
T |
0.750 |
SusceptibilityMutation
|
CLINVAR |
Verapamil may be of a therapeutic value in LQTS patients via preventing degradation of KCNE1-D85N.
|
24499369 |
2014 |
|
rs1805128
|
|
Long QT Syndrome
|
T |
0.750 |
SusceptibilityMutation
|
CLINVAR |
D85N, a KCNE1 polymorphism, is known to be a functional variant associated with drug-induced LQTS.
|
19695459 |
2009 |
|
rs1805128
|
|
Long QT Syndrome
|
T |
0.750 |
SusceptibilityMutation
|
CLINVAR |
Compound mutations: a common cause of severe long-QT syndrome.
|
15051636 |
2004 |
|
rs1805128
|
|
Long QT Syndrome
|
T |
0.750 |
SusceptibilityMutation
|
CLINVAR |
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
|
14760488 |
2004 |
|
rs1805128
|
|
Long QT Syndrome
|
T |
0.750 |
SusceptibilityMutation
|
CLINVAR |
Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.
|
14661677 |
2003 |
|
rs1805128
|
|
Long QT Syndrome
|
T |
0.750 |
SusceptibilityMutation
|
CLINVAR |
Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.
|
10807545 |
2000 |
|
rs1805128
|
|
Long QT Syndrome
|
T |
0.750 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs120074190
|
|
Long QT Syndrome
|
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 |
|
rs120074190
|
|
Long QT Syndrome
|
A |
0.730 |
CausalMutation
|
CLINVAR |
LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms.
|
25344363 |
2014 |
|
rs120074190
|
|
Long QT Syndrome
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1.
|
22095730 |
2012 |
|
rs120074190
|
|
Long QT Syndrome
|
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 |
|
rs120074190
|
|
Long QT Syndrome
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.
|
22629021 |
2012 |
|
rs120074190
|
|
Long QT Syndrome
|
A |
0.730 |
CausalMutation
|
CLINVAR |
A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome.
|
20659946 |
2010 |
|
rs120074190
|
|
Long QT Syndrome
|
A |
0.730 |
CausalMutation
|
CLINVAR |
High prevalence of four long QT syndrome founder mutations in the Finnish population.
|
19160088 |
2009 |
|
rs120074190
|
|
Long QT Syndrome
|
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 |
|
rs120074190
|
|
Long QT Syndrome
|
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 |