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rs386134161

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACAAAC;ACAAAC) 0 common in clinvar
Make rs386134161(-;-)
Make rs386134161(-;ACAAAC)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889648
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134161
ebirs386134161
HLIrs386134161
Exacrs386134161
Varsomers386134161
Maprs386134161
PheGenIrs386134161
hapmaprs386134161
1000 genomesrs386134161
hgdprs386134161
ensemblrs386134161
gopubmedrs386134161
geneviewrs386134161
scholarrs386134161
googlers386134161
pharmgkbrs386134161
gwascentralrs386134161
openSNPrs386134161
23andMers386134161
23andMe allrs386134161
SNP Nexus

SNPshotrs386134161
SNPdbers386134161
MSV3drs386134161
GWAS Ctlgrs386134161
Max Magnitude0
ClinVar
Risk rs386134161(;)
Alt rs386134161(;)
Reference rs386134161(ACAAAC;ACAAAC)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54392902_54392907delACAAAC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034984.2,


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