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rs386134164

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134164(A;A)
Make rs386134164(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889719
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134164
ebirs386134164
HLIrs386134164
Exacrs386134164
Varsomers386134164
Maprs386134164
PheGenIrs386134164
hapmaprs386134164
1000 genomesrs386134164
hgdprs386134164
ensemblrs386134164
gopubmedrs386134164
geneviewrs386134164
scholarrs386134164
googlers386134164
pharmgkbrs386134164
gwascentralrs386134164
openSNPrs386134164
23andMers386134164
23andMe allrs386134164
SNP Nexus

SNPshotrs386134164
SNPdbers386134164
MSV3drs386134164
GWAS Ctlgrs386134164
Max Magnitude0
ClinVar
Risk rs386134164(A;A)
Alt rs386134164(A;A)
Reference rs386134164(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54392973G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034991.2,


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