rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
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
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.
26392562
2015
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
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
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
BEFREE
The presence of two slowly inactivating mutants of the cardiac sodium channel (hNa(V)1.5), R1623Q and R1626P, associate with sporadic Long-QT3 (LQT3 ) syndrome, and may contribute to ventricular tachyarrhythmias and/or lethal ventricular disturbances.
20090423
2010
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
19716085
2009
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.
18929331
2008
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
18451998
2008
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.
18060054
2007
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
16922724
2006
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
15840476
2005
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
16414944
2005
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.
12454206
2003
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.
12209021
2002
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.
11410597
2001
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.
11304498
2001
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
BEFREE
These findings explain the unusual drug sensitivity of R1623Q and provide a general and unanticipated mechanism for understanding how Na channel-blocking agents may suppress the pathologic, sustained Na current induced by LQT3 mutations.
10772658
2000
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
A molecular link between the sudden infant death syndrome and the long-QT syndrome.
10911008
2000
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
10377081
1999
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.
10508990
1999
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits.
9686753
1998
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
BEFREE
Here we characterized a de novo missense mutation (R1623Q , S4 segment of domain 4) identified in an infant Japanese girl with a severe form of LQT3 .
9506831
1998
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
UNIPROT
Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online.
10627139
1998
rs137854600
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
0.840
GeneticVariation
BEFREE
The R1623Q mutation produces inactivation gating defects that differ mechanistically from those caused by LQT3 mutations.
9495298
1998