Disease: Ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519429
rs1057519429
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0004134
Disease:
Ataxia 		0.010 GeneticVariation BEFREE Exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.R1673P), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p.R1664Q variant, in four individuals with global developmental delay, hypotonia, and ophthalmologic abnormalities. 28742085 2017