rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
C
0.800
CausalMutation
CLINVAR
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
9570196
1998
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
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
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
9693036
1998
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.
9312006
1997
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
9024139
1997
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
Evidence of a long QT founder gene with varying phenotypic expression in South African families.
8818942
1996
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
16414944
2005
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
19808498
2009
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
9323054
1997
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
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
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
[Congenital long QT syndrome. The value of genetics in prognostic evaluation].
10367071
1999
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.
23994779
2013
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
C
0.800
GeneticVariation
CLINVAR
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
19808498
2009
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
21810866
2011
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
9386136
1997
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
12442276
2002
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
18165683
2008
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
16922724
2006
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
A molecular mechanism for adrenergic-induced long QT syndrome.
24184248
2014
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.
9272155
1997
rs199472759
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
0.800
GeneticVariation
UNIPROT
A recessive variant of the Romano-Ward long-QT syndrome?
9641694
1998