Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918513(A;A)
Make rs121918513(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889735
GenePRKCG
is asnp
is mentioned by
dbSNPrs121918513
ebirs121918513
HLIrs121918513
Exacrs121918513
Varsomers121918513
Maprs121918513
PheGenIrs121918513
hapmaprs121918513
1000 genomesrs121918513
hgdprs121918513
ensemblrs121918513
gopubmedrs121918513
geneviewrs121918513
scholarrs121918513
googlers121918513
pharmgkbrs121918513
gwascentralrs121918513
openSNPrs121918513
23andMers121918513
23andMe allrs121918513
SNP Nexus

SNPshotrs121918513
SNPdbers121918513
MSV3drs121918513
GWAS Ctlgrs121918513
Max Magnitude0
OMIM176980
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918513(A;A)
Alt rs121918513(A;A)
Reference rs121918513(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54392989G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014151.25,


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


[PMID 17024314] A Japanese case of SCA14 with the Gly128Asp mutation.


[PMID 18986758] Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG.