|
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 |
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.
|
16246960 |
2005 |
|
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
|
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
|
T |
0.770 |
CausalMutation
|
CLINVAR |
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
|
8528244 |
1996 |
|
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
|
A |
0.770 |
CausalMutation
|
CLINVAR |
Functional effects of mutations in KvLQT1 that cause long QT syndrome.
|
10376919 |
1999 |
|
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 |
|
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 |
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 |
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 |
GeneticVariation
|
CLINVAR |
|
|
|
|
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 |
Verapamil may be of a therapeutic value in LQTS patients via preventing degradation of KCNE1-D85N.
|
24499369 |
2014 |
|
rs28928905
|
|
Long QT Syndrome
|
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
|
|
Long QT Syndrome
|
T |
0.730 |
CausalMutation
|
CLINVAR |
An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.
|
23303164 |
2013 |
|
rs28928905
|
|
Long QT Syndrome
|
T |
0.730 |
CausalMutation
|
CLINVAR |
Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome.
|
20975234 |
2010 |
|
rs28928905
|
|
Long QT Syndrome
|
T |
0.730 |
CausalMutation
|
CLINVAR |
We report a case of a novel HERG mutation (A490T) that caused a bradycardia-associated form of long QT syndrome.
|
11170080 |
2001 |
|
rs151344631
|
|
Long QT Syndrome
|
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 |
|
rs151344631
|
|
Long QT Syndrome
|
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 |
|
rs151344631
|
|
Long QT Syndrome
|
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 |
|
rs151344631
|
|
Long QT Syndrome
|
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
|
|
Long QT Syndrome
|
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 |