PRKCG, protein kinase C gamma, 5582

N. diseases: 90; N. variants: 35
Disease: Spinocerebellar ataxia 14 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918515
rs121918515
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.710 GeneticVariation BEFREE Sequence analysis revealed a novel missense mutation, Gln127Arg, in all affected members of the family with SCA14. 14676051 2003
dbSNP: rs121918515
rs121918515
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		G 0.710 CausalMutation CLINVAR