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rs121918517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 spinocerebellar ataxia 14 possible
Make rs121918517(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position53898100
GenePRKCG
is asnp
is mentioned by
dbSNPrs121918517
ebirs121918517
HLIrs121918517
Exacrs121918517
Varsomers121918517
Maprs121918517
PheGenIrs121918517
hapmaprs121918517
1000 genomesrs121918517
hgdprs121918517
ensemblrs121918517
gopubmedrs121918517
geneviewrs121918517
scholarrs121918517
googlers121918517
pharmgkbrs121918517
gwascentralrs121918517
openSNPrs121918517
23andMers121918517
23andMe allrs121918517
SNP Nexus

SNPshotrs121918517
SNPdbers121918517
MSV3drs121918517
GWAS Ctlgrs121918517
Max Magnitude5
OMIM176980
Desc
Variant0007
Relatedalso
rs121908517, also known as c.1081A>G, p.Ser361Gly or S361G, is a SNP in the PRKCG gene on chromosome 19.

Based on one publication, the rare rs121908517(G) allele is reported to lead in a dominant manner to spinocerebellar ataxia, type 14. See OMIM or ClinVar for details.

ClinVar
Risk rs121918517(G;G)
Alt rs121918517(G;G)
Reference rs121918517(A;A)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54401354A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014155.26,


[PMID 15824357] The clinical and genetic spectrum of spinocerebellar ataxia 14.