rs137854601
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
|
24784157 |
2014 |
rs28937316
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
rs199473603
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.
|
10508990 |
1999 |
rs749697698
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Reduced voltage dependence of inactivation in the SCN5A sodium channel mutation delF1617.
|
15665061 |
2005 |
rs137854613
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel Brugada SCN5A mutation causing sudden death in children.
|
15840483 |
2005 |
rs137854613
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.
|
20539757 |
2010 |
rs72549410
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
|
27041150 |
2016 |
rs370694515
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
|
27041150 |
2016 |
rs137854601
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.
|
21321465 |
2011 |
rs137854613
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.
|
16325048 |
2005 |
rs137854601
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.
|
24871449 |
2014 |
rs199473603
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation.
|
22685113 |
2012 |
rs199473603
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
|
22378279 |
2012 |
rs137854601
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Heterologously expressed E1784K channels showed a 15.0-mV negative shift in the voltage dependence of Na channel inactivation and a 7.5-fold increase in flecainide affinity for resting-state channels, properties also seen with other LQT3 mutations associated with a mixed clinical phenotype.
|
18451998 |
2008 |
rs28937316
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
rs137854601
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.
|
10727653 |
2000 |
rs137854613
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).
|
14523039 |
2003 |
rs749697698
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).
|
14523039 |
2003 |
rs137854601
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
|
10377081 |
1999 |
rs28937316
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
rs28937316
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
|
8541846 |
1995 |
rs199473603
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Cardiac sodium channel dysfunction in sudden infant death syndrome.
|
17210841 |
2007 |
rs199473603
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
"Letter by O'Rourke regarding articles, ""Prevalence of long-QT syndrome gene variants in sudden infant death syndrome,"" ""Cardiac sodium channel dysfunction in sudden infant death syndrome,"" and ""Contribution of long-QT syndrome genes to sudden infant death syndrome: is it time to consider newborn electrocardiographic screening?""."
|
17646591 |
2007 |
rs137854600
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
|
|
|
rs137854601
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
|
|
|