|
rs199473055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings showed that sex hormones have no effects on the protein expression level and current of the wild-type Nav1.5, neither does it affect the protein expression level and current of BS</span>-associated Nav1.5 mutants R878C and R104W, regardless of homozygous or heterozygous state.
|
30476647 |
2020 |
|
rs199473168
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings showed that sex hormones have no effects on the protein expression level and current of the wild-type Nav1.5, neither does it affect the protein expression level and current of BS</span>-associated Nav1.5 mutants R878C and R104W, regardless of homozygous or heterozygous state.
|
30476647 |
2020 |
|
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 |
|
rs41261344
|
|
|
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 |
|
rs878855292
|
|
|
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 |
|
rs761274563
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Dermal fibroblasts obtained from a BrS patient suffering from SCD harbouring the SCN10A double variants (c.3803G>A and c.3749G>A) and three independent healthy control subjects were reprogrammed to hiPSCs.
|
31106349 |
2019 |
|
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 |
|
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 |
|
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 |
|
rs41261344
|
|
|
0.030 |
GeneticVariation |
BEFREE |
SCN5A(R1193Q) is often identified in patients with type 3 long QT syndrome and Brugada syndrome.
|
30419068 |
2018 |
|
rs185638763
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, A647D is an atypical SCN5A mutation causing Brugada syndrome.
|
29791480 |
2018 |
|
rs199473294
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic testing revealed a heterozygous missense mutation in the SCN5A gene (c. 5038G>A, p. Ala1680Thr), which has been reported in association with Brugada syndrome.
|
30254039 |
2018 |
|
rs199473295
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic testing revealed a heterozygous missense mutation in the SCN5A gene (c. 5038G>A, p. Ala1680Thr), which has been reported in association with Brugada syndrome.
|
30254039 |
2018 |
|
rs199473101
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.
|
28341781 |
2017 |
|
rs759924541
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.
|
28341781 |
2017 |
|
rs1366120635
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.
|
29202755 |
2017 |
|
rs1553692660
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs199473097
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
|
28600387 |
2017 |
|
rs199473097
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
|
28341588 |
2017 |
|
rs199473172
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.
|
28341781 |
2017 |
|
rs397514450
|
|
AAC |
0.700 |
CausalMutation |
CLINVAR |
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
|
28600387 |
2017 |
|
rs749697698
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death.
|
28782696 |
2017 |
|
rs757532106
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
|
28600387 |
2017 |
|
rs757532106
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs794728940
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.
|
29247119 |
2017 |