rs120074179
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.
|
22456477 |
2012 |
rs120074179
|
|
A |
0.710 |
CausalMutation |
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 |
rs120074179
|
|
A |
0.710 |
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 |
rs120074179
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
rs120074179
|
|
A |
0.710 |
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 |
rs120074179
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
|
15466642 |
2004 |
rs120074179
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The second mutation, V254M in KCNQ1, co-segregated with higher QT intervals and symptoms in other family members, and was previously reported in another LQTS family.
|
12820704 |
2003 |
rs120074179
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The second mutation, V254M in KCNQ1, co-segregated with higher QT intervals and symptoms in other family members, and was previously reported in another LQTS family.
|
12820704 |
2003 |
rs120074179
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
rs120074179
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Functional effects of mutations in KvLQT1 that cause long QT syndrome.
|
10376919 |
1999 |
rs120074179
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
|
9386136 |
1997 |
rs120074179
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
|
8528244 |
1996 |
rs120074179
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|