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rs386134171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134171(A;A)
Make rs386134171(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position53898097
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134171
ebirs386134171
HLIrs386134171
Exacrs386134171
Varsomers386134171
Maprs386134171
PheGenIrs386134171
hapmaprs386134171
1000 genomesrs386134171
hgdprs386134171
ensemblrs386134171
gopubmedrs386134171
geneviewrs386134171
scholarrs386134171
googlers386134171
pharmgkbrs386134171
gwascentralrs386134171
openSNPrs386134171
23andMers386134171
23andMe allrs386134171
SNP Nexus

SNPshotrs386134171
SNPdbers386134171
MSV3drs386134171
GWAS Ctlgrs386134171
Max Magnitude0
ClinVar
Risk rs386134171(A;A)
Alt rs386134171(A;A)
Reference rs386134171(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54401351G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034956.1,


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