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: rs121918513
rs121918513
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.810 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796 2017
dbSNP: rs121918513
rs121918513
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs121918513
rs121918513
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.810 GeneticVariation BEFREE It is possible that patients with the G128D mutation suffering from SCA14 may sometimes be classified as unaffected due to the varying clinical signs among family members. 18986758 2009
dbSNP: rs121918513
rs121918513
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		0.810 GeneticVariation UNIPROT Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. 12644968 2003
dbSNP: rs121918513
rs121918513
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C1854369
Disease:
Spinocerebellar ataxia 14 		A 0.810 CausalMutation CLINVAR