rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Structural and functional changes in a synthetic S5 segment of KvLQT1 channel as a result of a conserved amino acid substitution that occurs in LQT1 syndrome of human.
|
20044973 |
2010 |
rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan.
|
15234419 |
2004 |
rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.
|
9312006 |
1997 |
rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
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 |
rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.
|
12051962 |
2002 |
rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
|
18752142 |
2008 |
rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
KCNQ1 gain-of-function mutation in familial atrial fibrillation.
|
12522251 |
2003 |
rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
|
9386136 |
1997 |
rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
|
17470695 |
2007 |
rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
rs120074193
|
|
Long QT Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A molecular mechanism for adrenergic-induced long QT syndrome.
|
24184248 |
2014 |