rs80315385, CACNA1C

N. diseases: 3
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
0.710 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
Timothy syndrome
CUI: C1832916
Disease: Timothy syndrome
0.710 CausalMutation CLINVAR
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
0.010 GeneticVariation BEFREE In contrast to multiorgan disease caused by the mutation in G406R either in exon 8 A or 8, the G402S carrier manifested only an isolated cardiac phenotype with LQTS and cardiac arrest. 25691416 2015
Timothy syndrome type 2
CUI: C4304347
Disease: Timothy syndrome type 2
0.010 GeneticVariation BEFREE An atypical form of Timothy syndrome type 2 (TS2) is caused by mutations in G406R and G402S in the alternatively spliced exon 8. 25691416 2015