rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
25705178
2015
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
A molecular mechanism for adrenergic-induced long QT syndrome.
24184248
2014
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
T
0.810
GeneticVariation
CLINVAR
Overlapping cardiac phenotype associated with a familial mutation in the voltage sensor of the KCNQ1 channel.
22613981
2012
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
21241800
2011
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
BEFREE
We conclude that R231C is a pleiotropic missense mutation capabl e of LQT1 expression, AF expression, or both.
20850564
2011
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
T
0.810
GeneticVariation
CLINVAR
Sixteen members from five other R231C -positive LQT1 families were genetically tested for 21 single nucleotide polymorphisms (SNPs) to determine if the FAF family had discriminatory SNPs associated with AF.
20850564
2011
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
19808498
2009
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
T
0.810
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
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
T
0.810
GeneticVariation
CLINVAR
Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.
19843919
2009
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
18165683
2008
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
T
0.810
GeneticVariation
CLINVAR
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
16922724
2006
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
16922724
2006
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
16414944
2005
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
T
0.810
GeneticVariation
CLINVAR
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.
14998624
2004
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
T
0.810
GeneticVariation
CLINVAR
Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
15176425
2004
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
T
0.810
GeneticVariation
CLINVAR
[Congenital long QT syndrome in newborns].
12205790
2002
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
12442276
2002
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
10220146
1999
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
[Congenital long QT syndrome. The value of genetics in prognostic evaluation].
10367071
1999
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
9482580
1998
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
9693036
1998
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
9570196
1998
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
A recessive variant of the Romano-Ward long-QT syndrome?
9641694
1998
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.
9272155
1997
rs199473457
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.810
GeneticVariation
UNIPROT
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
9024139
1997