|
rs11708996
|
|
|
0.820 |
GeneticVariation |
BEFREE |
<b>Introduction:</b> A previous genome-wide association study found three genetic loci, rs9388451, rs10428132, and rs11708996, to increase the risk of Brugada Syndrome (BrS).
|
30042696 |
2018 |
|
rs11708996
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF.
|
24667784 |
2014 |
|
rs199473282
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome.
|
11786529 |
2002 |
|
rs199473282
|
|
|
0.740 |
GeneticVariation |
BEFREE |
SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells.
|
10664447 |
2000 |
|
rs199473282
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examined for defects in intermediate inactivation (I:(M)), a gating process in Na(+) channels with kinetic features intermediate between fast and slow inactivation.
|
11029409 |
2000 |
|
rs199473282
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome.
|
18503232 |
2008 |
|
rs137854601
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We demonstrate a strong genotype-phenotype correlation with complete penetrance for BrS, LQTS, or CCD in the largest family harboring SCN5A-E1784K mutation described so far.
|
27381756 |
2016 |
|
rs137854601
|
|
|
0.720 |
GeneticVariation |
BEFREE |
E1784K is the most common mixed syndrome SCN5a mutation underpinning both Brugada syndrome type 1 (BrS1) and Long-QT syndrome type 3 (LQT3).
|
29483621 |
2018 |
|
rs137854614
|
|
|
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 |
|
rs137854614
|
|
|
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 |
|
rs28937318
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Dermal fibroblasts from a Brugada syndrome patient with a mutation in SCN5A (c.1100G>A, leading to Na<sub>v</sub>1.5_p.R367H) were reprogrammed to iPS cells.
|
29024690 |
2018 |
|
rs28937318
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS.
|
24529773 |
2014 |
|
rs137854611
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We here engineered human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) carrying the CRISPR/Cas9 introduced BrS-mutation p.A735V-Na<sub>V</sub>1.5 (g.2204C > T in exon 14 of SCN5A) as a novel model independent of patient´s genetic background.
|
31371804 |
2019 |
|
rs199473058
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS.
|
24529773 |
2014 |
|
rs199473062
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Our experimental and computational analysis of the E161K mutation suggests that a loss of sodium channel function is not only associated with Brugada syndrome and conduction disease, but may also cause sinus node dysfunction in carriers of this mutation.
|
15910881 |
2005 |
|
rs199473101
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A novel mutation, R376H, in the first pore segment of SCN5A variably causes Brugada syndrome and/or conduction disease in a single family.
|
15851228 |
2004 |
|
rs199473220
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The biophysical alterations of the G1319V mutation all contribute to a reduction in I(Na), in line with the proposed mechanism underlying BrS.
|
17854786 |
2007 |
|
rs759924541
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We describe a family showing the association between Brugada syndrome and epilepsy in which a known mutation in the SCN5A gene (p.W1095X, c.3284G>A) was identified.
|
23538271 |
2013 |
|
rs794728849
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Eleven members of the LQTS family (39%) showed p.Gln1507-Lys1508-Pro1509del mutation, 8 of BrS family (50%) showed p.Arg222Ter nonsense mutation, and 5 of 9 SSS family members (55%) showed a novel p.Met1498Arg mutation in the SCN5A gene.
|
26467377 |
2016 |
|
rs1805124
|
|
|
0.040 |
GeneticVariation |
BEFREE |
H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.
|
29202755 |
2017 |
|
rs1805124
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The polymorphism of A1673G might be associated with BS and may contribute to a susceptibility to BS in Han Chinese.
|
15161528 |
2004 |
|
rs1805124
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Importantly, we also expressed the peptide spanning the H558R polymorphism with 8 additional BrS Na(v)1.5 mutations with reduced currents and demonstrated that the peptide was able to restore significant sodium currents in 4 of them.
|
21840964 |
2011 |
|
rs1805124
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The common variant H558R seems to be a genetic modulator of Brugada syndrome among carriers of a SCN5A mutation, in whom the presence of the less common allele G improves the ECG characteristics and clinical phenotype.
|
19549036 |
2009 |
|
rs137854615
|
|
|
0.030 |
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 |
|
rs137854615
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Channels associated with LQT-3 (D1790G) and BrS (Y1795H) both show more sensitivity to flecainide than wild-type (WT) channels, while lidocaine sensitivity is unchanged.
|
12814325 |
2003 |