|
rs878855296
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The purpose of this study was to characterize the pathological consequences of a gating pore in the heart arising from the Na<sub>v</sub>1.5/R219H mutation in a patient with complex cardiac arrhythmias and DCM.
|
30218094 |
2018 |
|
rs878855296
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Three family members with DCM carried the R219H mutation.The wild-type (WT) and mutant Na(+) channels were expressed in a heterologous expression system, and intracellular pH (pHi) was measured using a pH-sensitive electrode.
|
22675453 |
2012 |
|
rs1805124
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study demonstrates an association between familial DCM and the rs1805124 polymorphism in the SCN5A gene, which may unravel additional genetic predisposition to the development of a multifactorial disease as DCM.
|
29782370 |
2018 |
|
rs757482673
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM.
|
26458567 |
2015 |
|
rs41310765
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, our finding suggests that A1180V is a potential risk factor for DCM, and it is extremely rare among Healthy Han Chinese.
|
24227891 |
2013 |
|
rs45546039
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R222Q SCN5A variant has an activating effect on sodium channel function and is associated with reversible ventricular ectopy and DCM.
|
22999724 |
2012 |
|
rs137854618
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation scans identified a missense mutation (D1275N) that cosegregated with an age-dependent, variably expressed phenotype of DCM, atrial fibrillation, impaired automaticity, and conduction delay.
|
15671429 |
2005 |