|
rs199473083
|
|
Brugada 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 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.
|
26776555 |
2016 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
|
26279430 |
2015 |
|
rs199473083
|
|
Brugada 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 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.
|
24167619 |
2013 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs199473083
|
|
Brugada 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 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
|
19251209 |
2009 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.
|
19272188 |
2009 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.
|
18456723 |
2008 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.
|
18252757 |
2008 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
|
18451998 |
2008 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
[Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome].
|
18341814 |
2007 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A sodium channel pore mutation causing Brugada syndrome.
|
17198989 |
2007 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.
|
16616735 |
2006 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].
|
17081365 |
2006 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.
|
16266370 |
2005 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.
|
16325048 |
2005 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.
|
15579534 |
2004 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
|
11823453 |
2002 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
|
12106943 |
2002 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.
|
10532948 |
1999 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.
|
10690282 |
1999 |
|
rs199473083
|
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
|
9521325 |
1998 |