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rs386134160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386134160(A;A)
Make rs386134160(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position53884187
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134160
ebirs386134160
HLIrs386134160
Exacrs386134160
Varsomers386134160
Maprs386134160
PheGenIrs386134160
hapmaprs386134160
1000 genomesrs386134160
hgdprs386134160
ensemblrs386134160
gopubmedrs386134160
geneviewrs386134160
scholarrs386134160
googlers386134160
pharmgkbrs386134160
gwascentralrs386134160
openSNPrs386134160
23andMers386134160
23andMe allrs386134160
SNP Nexus

SNPshotrs386134160
SNPdbers386134160
MSV3drs386134160
GWAS Ctlgrs386134160
Max Magnitude0
ClinVar
Risk rs386134160(A;A)
Alt rs386134160(A;A)
Reference rs386134160(T;T)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54387441T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034975.2,


[PMID 17708558] Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.