Gene: SCN5A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854615
rs137854615
SCN5A
0.030 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
dbSNP: rs199473083
rs199473083
SCN5A
0.030 GeneticVariation BEFREE Previously, the R282H-SCN5A mutation in the sodium channel gene was identified in patients with Brugada syndrome. 16864729

2006
dbSNP: rs199473083
rs199473083
SCN5A
0.030 GeneticVariation BEFREE We previously reported that the function of a trafficking-deficient BrS Na(v)1.5 mutation, R282H, could be restored by coexpression with the sodium channel polymorphism H558R. 21840964

2011
dbSNP: rs199473083
rs199473083
SCN5A
0.030 GeneticVariation BEFREE The electrophysiological characteristics of the R282H channel are suggested to be closely related to the clinical phenotype of Brugada syndrome. 15828879

2005
dbSNP: rs199473574
rs199473574
SCN5A
0.030 GeneticVariation BEFREE Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome. 19706159

2009
dbSNP: rs199473574
rs199473574
SCN5A
0.030 GeneticVariation BEFREE We also identified the SCN5A A551T mutation in 1 of the 28 patients with Brugada syndrome. 16155735

2005
dbSNP: rs199473574
rs199473574
SCN5A
0.030 GeneticVariation BEFREE SCN5A genetic variants were identified in 14 of the 47 patients with BrS and four of the 14 patients with BrS had missense mutations (1651 G>A, 1776 C>G, 3578 G>A). 26154754

2015
dbSNP: rs41261344
rs41261344
SCN5A
0.030 GeneticVariation BEFREE SCN5A(R1193Q) is often identified in patients with type 3 long QT syndrome and Brugada syndrome. 30419068

2018
dbSNP: rs41261344
rs41261344
SCN5A
0.030 GeneticVariation BEFREE DNA analysis revealed a missense mutation (R1193Q) in the SCN5A gene, previously linked with familial sudden unexpected nocturnal death syndrome, also known as Brugada syndrome. 15851440

2005
dbSNP: rs41261344
rs41261344
SCN5A
0.030 GeneticVariation BEFREE <b>Conclusion:</b> A common SCN5A polymorphism R1193Q enhances UDB by propafenone and predisposes the patients to drug-induced BrS with PIP treatment. 30984031

2019
dbSNP: rs878855292
rs878855292
SCN5A
0.030 GeneticVariation BEFREE An R1632C variant in the SCN5A gene causing Brugada syndrome. 27082542

2016
dbSNP: rs878855292
rs878855292
SCN5A
0.030 GeneticVariation BEFREE Our genetic screening of SCN5A in 65 consecutive BrS probands revealed two patients with overlapping phenotypes: one carried an SCN5A R1632C (in domain IV-segment 4), which we have previously reported, the other carried a novel SCN5A N1541D (in domain IV-segment 1). 30935997

2019
dbSNP: rs878855292
rs878855292
SCN5A
0.030 GeneticVariation BEFREE A novel SCN5A R1632C mutation, located in the domain IV-segment 4 voltage sensor, was identified in a young male patient who had a syncopal episode during exercise and presented with atrial tachycardia, sinus node dysfunction, and Brugada syndrome. 26031372

2015
dbSNP: rs1060499900
rs1060499900
SCN5A
0.020 GeneticVariation BEFREE p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient. 23085483

2013
dbSNP: rs1060499900
rs1060499900
SCN5A
0.020 GeneticVariation BEFREE Thus, the mutant‑induced changes contributed to the loss of function of Nav1.5 channels, which indicates that the p.D1690N variant may have a pathogenic role in BrS. 27108952

2016
dbSNP: rs137854602
rs137854602
SCN5A
0.020 GeneticVariation BEFREE The R1512W mutation found in our first patient diagnosed with Brugada syndrome produced a slowing of both inactivation and recovery from inactivation. 10727653

2000
dbSNP: rs137854602
rs137854602
SCN5A
0.020 GeneticVariation BEFREE This initial functional study for SCN5A mutation in the Chinese SUNDS victim revealed that the acidosis aggravated the loss of function of mutant channel R1512W and suggested that nocturnal sleep disorders-associated slight acidosis may trigger the lethal arrhythmia underlying the sudden death of SUNDS cases in the setting of genetic defect. 27281089

2016
dbSNP: rs199473096
rs199473096
SCN5A
0.020 GeneticVariation BEFREE The clinical presentation of patients carrying the T353I mutation is that of Brugada syndrome and could be explained by a cardiac Na(+) channel trafficking defect. 17198989

2007
dbSNP: rs199473096
rs199473096
SCN5A
0.020 GeneticVariation BEFREE Electrophysiological and trafficking defects of the SCN5A T353I mutation in Brugada syndrome are rescued by alpha-allocryptopine. 25261036

2015
dbSNP: rs199473568
rs199473568
SCN5A
0.020 GeneticVariation BEFREE Molecular genetic studies of a patient with Brugada syndrome identified a novel mutation in SCN5A, which causes substitution of serine for asparagine (N406S) in S6 of domain I (IS6). 15877619

2005
dbSNP: rs199473568
rs199473568
SCN5A
0.020 GeneticVariation BEFREE We demonstrate that lidocaine may suppress Brugada syndrome associated with the N406S mutation by preventing the sodium channel from accumulating in the intermediate inactivation state. 17445919

2007
dbSNP: rs199473625
rs199473625
SCN5A
0.020 GeneticVariation BEFREE Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome. 17075016

2006
dbSNP: rs199473625
rs199473625
SCN5A
0.020 GeneticVariation BEFREE We describe a family harboring 2 SCN5A mutations: the ΔKPQ mutation, the "classical" gain-of-function mutation associated with Long-QT syndrome, and the I1660V mutation, a loss-of-function mutation associated with Brugada syndrome. 20812931

2011
dbSNP: rs1237724419
rs1237724419
SCN5A
0.010 GeneticVariation BEFREE The W1191X mutation is associated with BS and resulted in the loss of function of the cardiac sodium channel. 17141278

2007
dbSNP: rs137854613
rs137854613
SCN5A
0.010 GeneticVariation BEFREE Readthrough of SCN5A Nonsense Mutations p.R1623X and p.S1812X Questions Gene-therapy in Brugada Syndrome. 28552050

2017