Disease: Timothy syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80315385
rs80315385
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
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
dbSNP: rs80315385
rs80315385
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease:
Timothy syndrome 		A 0.710 CausalMutation CLINVAR