Disease: Timothy syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
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
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
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
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
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
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease:
Timothy syndrome 		A 0.730 CausalMutation CLINVAR