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rs121918511

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918511(C;T)
Make rs121918511(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889653
GenePRKCG
is asnp
is mentioned by
dbSNPrs121918511
ebirs121918511
HLIrs121918511
Exacrs121918511
Varsomers121918511
Maprs121918511
PheGenIrs121918511
hapmaprs121918511
1000 genomesrs121918511
hgdprs121918511
ensemblrs121918511
gopubmedrs121918511
geneviewrs121918511
scholarrs121918511
googlers121918511
pharmgkbrs121918511
gwascentralrs121918511
openSNPrs121918511
23andMers121918511
23andMe allrs121918511
SNP Nexus

SNPshotrs121918511
SNPdbers121918511
MSV3drs121918511
GWAS Ctlgrs121918511
Max Magnitude0
OMIM176980
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918511(T;T)
Alt rs121918511(T;T)
Reference rs121918511(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54392907C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014149.24,


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


[PMID 17659643] Codon 101 of PRKCG, a preferential mutation site in SCA14.