PRKCG, protein kinase C gamma, 5582

N. diseases: 90; N. variants: 35
Disease: Autosomal dominant cerebellar ataxia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918514
rs121918514 		0.925 0.080 19 53889705 missense variant G/A snv
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		0.010 1.000 1 2005 2005
dbSNP: rs386134168
rs386134168 		0.925 0.080 19 53889901 missense variant T/A;C snv 5.1E-06
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		0.010 1.000 1 2006 2006