rs797044881, CACNA1C

N. diseases: 1
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
0.010 GeneticVariation BEFREE Whole exome sequencing revealed a novel CACNA1C mutation, p.Ile1166Thr, in a young male with diagnosed TS. 25260352 2015