Disease: Congenital cerebellar ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514619
rs397514619
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3
CUI: C0852975
Disease:
Congenital cerebellar ataxia 		0.010 GeneticVariation BEFREE Using X-exome sequencing we have identified a missense mutation (G1107D) in the CaM-binding domain of isoform 3 of the PMCAs in a family with X-linked congenital cerebellar ataxia. 22912398 2012