rs374528680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, the increased repolarization dispersion caused by the G1911R mutation is a primary factor that may primarily contribute to the genesis of cardiac arrhythmias in Timothy Syndrome.
|
27502440 |
2016 |
rs786205745
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Classical Timothy syndrome type 1 (TS1) results from a recurrent de novo CACNA1C mutation, G406R in exon 8 A.
|
25691416 |
2015 |
rs79891110
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Classical Timothy syndrome type 1 (TS1) results from a recurrent de novo CACNA1C mutation, G406R in exon 8 A.
|
25691416 |
2015 |
rs797044881
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole exome sequencing revealed a novel CACNA1C mutation, p.Ile1166Thr, in a young male with diagnosed TS.
|
25260352 |
2015 |
rs786205745
|
|
|
0.730 |
GeneticVariation |
BEFREE |
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
|
|
|
0.730 |
GeneticVariation |
BEFREE |
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 |
rs80315385
|
|
|
0.710 |
GeneticVariation |
BEFREE |
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 |
rs587782933
|
|
|
0.010 |
GeneticVariation |
BEFREE |
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 |
rs794727587
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Initial targeted mutation analysis did not identify either of the previously described TS associated mutations; however, full gene sequencing detected a novel CACNA1C gene mutation (p.Ala1473Gly).
|
22106044 |
2012 |
rs786205745
|
|
|
0.730 |
GeneticVariation |
BEFREE |
All previously described cases of TS-1 are the result of a missense mutation in exon 8A (p.G406R), an alternatively spliced variant of the L-type calcium channel gene (Ca(v)1.2, CACNA1C).
|
21910241 |
2011 |
rs79891110
|
|
|
0.730 |
GeneticVariation |
BEFREE |
All previously described cases of TS-1 are the result of a missense mutation in exon 8A (p.G406R), an alternatively spliced variant of the L-type calcium channel gene (Ca(v)1.2, CACNA1C).
|
21910241 |
2011 |
rs786205745
|
|
C |
0.730 |
CausalMutation |
CLINVAR |
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
|
15454078 |
2004 |
rs786205745
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
|
|
|
rs79891110
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
|
|
|
rs794727587
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs80315385
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs730880056
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs730880056
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|