rs786205745, CACNA1C

N. diseases: 6
Disease: Timothy syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Timothy syndrome
CUI: C1832916
Disease: Timothy syndrome
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
Timothy syndrome
CUI: C1832916
Disease: Timothy syndrome
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
Timothy syndrome
CUI: C1832916
Disease: Timothy syndrome
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
Timothy syndrome
CUI: C1832916
Disease: Timothy syndrome
0.730 CausalMutation CLINVAR Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004
Timothy syndrome
CUI: C1832916
Disease: Timothy syndrome
0.730 CausalMutation CLINVAR