|
rs79891110
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Two probands were identified with mutations in CACNA1C, one with a TS-associated mutation, G406R, and a second with genotype-negative LQTS.
|
27390944 |
2016 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation.
|
26822303 |
2016 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2?
|
26227324 |
2015 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Imaging diagnosis-ultrasonographic and CT findings in a gray seal (Halichoerus grypus) with hepatic cirrhosis, pyelonephritis, and nephrolithiasis.
|
23578275 |
2014 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome.
|
23690510 |
2013 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
|
23631430 |
2013 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2).
|
23580742 |
2013 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
|
21910241 |
2011 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation.
|
19074970 |
2009 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels.
|
18250309 |
2008 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
|
15863612 |
2005 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
|
15454078 |
2004 |