|
rs199472910
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.
|
27816319 |
2017 |
|
rs199472910
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Congenital long QT syndrome with compound mutations in the KCNH2 gene.
|
24057343 |
2014 |
|
rs199472910
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.
|
19843919 |
2009 |
|
rs199472990
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.
|
18441445 |
2008 |
|
rs199472990
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
|
28349240 |
2017 |
|
rs199472990
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
|
23098067 |
2012 |
|
rs199472990
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
rs199472990
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome.
|
11009462 |
2000 |
|
rs199472990
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.
|
29431731 |
2018 |
|
rs199472990
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.
|
23303164 |
2013 |
|
rs199472990
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.
|
16432067 |
2006 |
|
rs199472990
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
|
26669661 |
2016 |
|
rs199473428
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.
|
10862094 |
2000 |
|
rs199473428
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.
|
22949429 |
2012 |
|
rs199473428
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
|
26187847 |
2015 |
|
rs199473428
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.
|
19490267 |
2009 |
|
rs199473428
|
|
T |
0.700 |
GeneticVariation |
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 |
|
rs199473538
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.
|
23158531 |
2012 |
|
rs199473538
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
|
rs199473538
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].
|
16831322 |
2006 |
|
rs199473538
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.
|
16432067 |
2006 |
|
rs199473538
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Analysis of the cyclic nucleotide binding domain of the HERG potassium channel and interactions with KCNE2.
|
11278781 |
2001 |
|
rs199473538
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
|
23631430 |
2013 |
|
rs199473538
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.
|
11854117 |
2002 |
|
rs199473538
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human Ether-à-go-go-Related Gene.
|
12270925 |
2002 |