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rs386134159

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134159(G;T)
Make rs386134159(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position53883180
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134159
ebirs386134159
HLIrs386134159
Exacrs386134159
Varsomers386134159
Maprs386134159
PheGenIrs386134159
hapmaprs386134159
1000 genomesrs386134159
hgdprs386134159
ensemblrs386134159
gopubmedrs386134159
geneviewrs386134159
scholarrs386134159
googlers386134159
pharmgkbrs386134159
gwascentralrs386134159
openSNPrs386134159
23andMers386134159
23andMe allrs386134159
SNP Nexus

SNPshotrs386134159
SNPdbers386134159
MSV3drs386134159
GWAS Ctlgrs386134159
Max Magnitude0
ClinVar
Risk rs386134159(T;T)
Alt rs386134159(T;T)
Reference rs386134159(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54386434G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034967.1,


[PMID 17149711] Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.