Gene: SCN5A ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854600
rs137854600
SCN5A
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
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia. 26392562

2015
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs137854600
rs137854600
SCN5A
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
dbSNP: rs137854600
rs137854600
SCN5A
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
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 18451998

2008
dbSNP: rs137854600
rs137854600
SCN5A
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
dbSNP: rs137854600
rs137854600
SCN5A
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
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724

2006
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs137854600
rs137854600
SCN5A
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
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. 12454206

2003
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction. 12209021

2002
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel. 11304498

2001
dbSNP: rs137854600
rs137854600
SCN5A
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
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT A molecular link between the sudden infant death syndrome and the long-QT syndrome. 10911008

2000
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. 10508990

1999
dbSNP: rs137854600
rs137854600
SCN5A
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
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits. 9686753

1998
dbSNP: rs137854600
rs137854600
SCN5A
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
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT 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
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 8541846

1995
dbSNP: rs137854600
rs137854600
SCN5A
0.840 GeneticVariation UNIPROT Molecular mechanism for an inherited cardiac arrhythmia. 7651517

1995
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia. 26392562

2015