Gene: SCN5A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. 24871449

2014
dbSNP: rs28937318
rs28937318
SCN5A
0.720 GeneticVariation BEFREE Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS. 24529773

2014
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS. 24529773

2014
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block. 22899775

2012
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome. 21273195

2011
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations. 21840964

2011
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization. 22028457

2011
dbSNP: rs28937318
rs28937318
SCN5A
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
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 18452873

2008
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Of 41 E1784K carriers, 93% had LQT3, 22% had BrS, and 39% had sinus node dysfunction. 18451998

2008
dbSNP: rs137854614
rs137854614
SCN5A
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
dbSNP: rs28937318
rs28937318
SCN5A
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
dbSNP: rs137854614
rs137854614
SCN5A
0.720 GeneticVariation BEFREE Recently, two novel missense mutations at the same codon in the gene encoding the cardiac Na+ channel (SCN5A) have been identified: Y1795C (causing the LQTS phenotype) and Y1795H (causing the BrS phenotype). 16929919

2006
dbSNP: rs137854614
rs137854614
SCN5A
C 0.720 CausalMutation CLINVAR Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique. 16254012

2006
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Gene sequencing in neonates and infants with the long QT syndrome. 16379539

2005
dbSNP: rs137854614
rs137854614
SCN5A
C 0.720 CausalMutation CLINVAR Structural effects of an LQT-3 mutation on heart Na+ channel gating. 14990510

2004
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. 12877697

2003
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR The implications of genetic mutations in the sodium channel gene (SCN5A). 14753626

2003
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Natural history of Brugada syndrome: insights for risk stratification and management. 11901046

2002
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 11823453

2002
dbSNP: rs137854614
rs137854614
SCN5A
0.720 GeneticVariation BEFREE 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