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rs386134169

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134169(A;A)
Make rs386134169(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889905
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134169
ebirs386134169
HLIrs386134169
Exacrs386134169
Varsomers386134169
Maprs386134169
PheGenIrs386134169
hapmaprs386134169
1000 genomesrs386134169
hgdprs386134169
ensemblrs386134169
gopubmedrs386134169
geneviewrs386134169
scholarrs386134169
googlers386134169
pharmgkbrs386134169
gwascentralrs386134169
openSNPrs386134169
23andMers386134169
23andMe allrs386134169
SNP Nexus

SNPshotrs386134169
SNPdbers386134169
MSV3drs386134169
GWAS Ctlgrs386134169
Max Magnitude0
ClinVar
Risk rs386134169(A;A)
Alt rs386134169(A;A)
Reference rs386134169(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54393159C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034998.2,


[PMID 21434874] SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.