|
rs137854601
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs137854618
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The aim of this study was to generate and characterize a transgenic zebrafish arrhythmia model harboring the pathogenic human cardiac sodium channel mutation SCN5A-D1275N, that has been robustly associated with a range of cardiac phenotypes, including conduction disease, sinus node dysfunction, atrial and ventricular arrhythmias, and dilated cardiomyopathy in humans and in mice.
|
23791817 |
2013 |
|
rs137854618
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We identified D1275N in a patient with atrial flutter, atrial standstill, conduction disease, and sinus node dysfunction.
|
21824921 |
2011 |
|
rs1474925551
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a 3-generation family with SND we identified a novel variant in KCNJ5 which leads to an amino acid substitution (p.Trp101Cys) in the first transmembrane domain of the Kir3.4 subunit of the cardiac GIRK channel.
|
30645171 |
2019 |
|
rs768138092
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous missense mutation (p.P33R) was identified in the SND cohort and four heterozygous variants (p.G77D, p.L129=, p.L130F, p.A293=) in the AF cohort.
|
31354791 |
2019 |
|
rs6817105
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings strongly implicate rs6817105 minor allele in sinus node dysfunction and left atrial enlargement.
|
30275471 |
2018 |
|
rs199473062
|
|
|
0.010 |
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 |
|
rs104894485
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A missense mutation, D553N, was found in a patient with sinus node dysfunction who showed recurrent syncope, QT prolongation in electrocardiogram, and polymorphic ventricular tachycardia, torsade de pointes.
|
15123648 |
2004 |