rs1805128
|
|
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
|
|
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
|
|
T |
0.750 |
GeneticVariation |
CLINVAR |
|
|
|
rs151344631
|
|
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 |
rs120074190
|
|
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
|
|
|
0.730 |
GeneticVariation |
BEFREE |
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 |
rs151344631
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We examined the role of a novel synonymous <i>KCNQ1</i> p.L353L variant on the splicing of exon 8 and on heart rate corrected QT interval (QTc) in a population known to have a pathogenic LQTS type 1 (LQTS1) causative mutation, p.V205M, in <i>KCNQ1</i>-encoded Kv7.1.
|
28264985 |
2017 |
rs151344631
|
|
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 |
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms.
|
25344363 |
2014 |
rs151344631
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Given the lack of prelingual deafness the homozygous V205M LQTS patients present with a phenotype more typical of RWS than JLNS.
|
23844633 |
2014 |
rs151344631
|
|
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 |
rs151344631
|
|
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 |
rs28928905
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.
|
23303164 |
2013 |
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1.
|
22095730 |
2012 |
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.
|
22629021 |
2012 |
rs120074190
|
|
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
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We studied the effect of D85N on age-, sex-, and heart rate-adjusted QT-interval duration by linear regression in LQTS patients carrying the Finnish founder mutations KCNQ1 G589D (n = 492), KCNQ1 IVS7-2A>G (n = 66), KCNH2 L552S (n = 73), and KCNH2 R176W (n = 88).
|
21244686 |
2011 |
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome.
|
20659946 |
2010 |
rs28928905
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome.
|
20975234 |
2010 |
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
High prevalence of four long QT syndrome founder mutations in the Finnish population.
|
19160088 |
2009 |
rs151344631
|
|
|
0.730 |
GeneticVariation |
BEFREE |
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 |
rs151344631
|
|
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 |
rs28928905
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2.
|
18808722 |
2008 |
rs28928905
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2.
|
18808722 |
2008 |
rs28928905
|
|
|
0.730 |
GeneticVariation |
BEFREE |
A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome.
|
17560885 |
2007 |