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rs386134167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134167(A;A)
Make rs386134167(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889744
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134167
ebirs386134167
HLIrs386134167
Exacrs386134167
Varsomers386134167
Maprs386134167
PheGenIrs386134167
hapmaprs386134167
1000 genomesrs386134167
hgdprs386134167
ensemblrs386134167
gopubmedrs386134167
geneviewrs386134167
scholarrs386134167
googlers386134167
pharmgkbrs386134167
gwascentralrs386134167
openSNPrs386134167
23andMers386134167
23andMe allrs386134167
SNP Nexus

SNPshotrs386134167
SNPdbers386134167
MSV3drs386134167
GWAS Ctlgrs386134167
Max Magnitude0
ClinVar
Risk rs386134167(A;A)
Alt rs386134167(A;A)
Reference rs386134167(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54392998G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034994.1,


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