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rs121918512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918512(C;C)
Make rs121918512(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889707
GenePRKCG
is asnp
is mentioned by
dbSNPrs121918512
ebirs121918512
HLIrs121918512
Exacrs121918512
Varsomers121918512
Maprs121918512
PheGenIrs121918512
hapmaprs121918512
1000 genomesrs121918512
hgdprs121918512
ensemblrs121918512
gopubmedrs121918512
geneviewrs121918512
scholarrs121918512
googlers121918512
pharmgkbrs121918512
gwascentralrs121918512
openSNPrs121918512
23andMers121918512
23andMe allrs121918512
SNP Nexus

SNPshotrs121918512
SNPdbers121918512
MSV3drs121918512
GWAS Ctlgrs121918512
Max Magnitude0
OMIM176980
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918512(C;C)
Alt rs121918512(C;C)
Reference rs121918512(T;T)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54392961T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014150.25,


[PMID 12644968OA-icon.png] Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.