Disease: Timothy syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727587
rs794727587
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease:
Timothy syndrome 		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
dbSNP: rs794727587
rs794727587
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease:
Timothy syndrome 		G 0.710 CausalMutation CLINVAR