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rs386134165

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134165(A;A)
Make rs386134165(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889720
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134165
ebirs386134165
HLIrs386134165
Exacrs386134165
Varsomers386134165
Maprs386134165
PheGenIrs386134165
hapmaprs386134165
1000 genomesrs386134165
hgdprs386134165
ensemblrs386134165
gopubmedrs386134165
geneviewrs386134165
scholarrs386134165
googlers386134165
pharmgkbrs386134165
gwascentralrs386134165
openSNPrs386134165
23andMers386134165
23andMe allrs386134165
SNP Nexus

SNPshotrs386134165
SNPdbers386134165
MSV3drs386134165
GWAS Ctlgrs386134165
Max Magnitude0
ClinVar
Risk rs386134165(A;A)
Alt rs386134165(A;A)
Reference rs386134165(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54392974G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034992.1,


[PMID 16193476] New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.