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rs121918514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918514(A;A)
Make rs121918514(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889705
GenePRKCG
is asnp
is mentioned by
dbSNPrs121918514
ebirs121918514
HLIrs121918514
Exacrs121918514
Varsomers121918514
Maprs121918514
PheGenIrs121918514
hapmaprs121918514
1000 genomesrs121918514
hgdprs121918514
ensemblrs121918514
gopubmedrs121918514
geneviewrs121918514
scholarrs121918514
googlers121918514
pharmgkbrs121918514
gwascentralrs121918514
openSNPrs121918514
23andMers121918514
23andMe allrs121918514
SNP Nexus

SNPshotrs121918514
SNPdbers121918514
MSV3drs121918514
GWAS Ctlgrs121918514
Max Magnitude0
OMIM176980
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918514(A;A)
Alt rs121918514(A;A)
Reference rs121918514(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54392959G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014152.25,


[PMID 14694043] Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.


[PMID 15841389] Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.


[PMID 17343273] PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype.