rs137854601
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.
|
12877697 |
2003 |
rs137854601
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Natural history of Brugada syndrome: insights for risk stratification and management.
|
11901046 |
2002 |
rs137854601
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.
|
10727653 |
2000 |
rs137854614
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
We report the analysis of two novel mutations on the same codon, Y1795C (LQT-3) and Y1795H (BrS), expressed in HEK 293 cells and characterized using whole-cell patch clamp procedures.
|
11410597 |
2001 |
rs137854614
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique.
|
16254012 |
2006 |
rs137854614
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Structural effects of an LQT-3 mutation on heart Na+ channel gating.
|
14990510 |
2004 |
rs137854614
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.
|
18929331 |
2008 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.
|
21840964 |
2011 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
|
11823453 |
2002 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands.
|
17697823 |
2007 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.
|
22899775 |
2012 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS.
|
24529773 |
2014 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
|
26173111 |
2015 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
The implications of genetic mutations in the sodium channel gene (SCN5A).
|
14753626 |
2003 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome.
|
21273195 |
2011 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
|
20129283 |
2010 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization.
|
22028457 |
2011 |
rs137854611
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands.
|
17697823 |
2007 |
rs137854611
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations.
|
26283144 |
2015 |
rs137854611
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
|
20129283 |
2010 |
rs137854611
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Natural history of Brugada syndrome: insights for risk stratification and management.
|
11901046 |
2002 |
rs137854611
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
rs137854611
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
|
11823453 |
2002 |
rs137854611
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.
|
21321465 |
2011 |