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rs386134157

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386134157(A;G)
Make rs386134157(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position53882570
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134157
ebirs386134157
HLIrs386134157
Exacrs386134157
Varsomers386134157
Maprs386134157
PheGenIrs386134157
hapmaprs386134157
1000 genomesrs386134157
hgdprs386134157
ensemblrs386134157
gopubmedrs386134157
geneviewrs386134157
scholarrs386134157
googlers386134157
pharmgkbrs386134157
gwascentralrs386134157
openSNPrs386134157
23andMers386134157
23andMe allrs386134157
SNP Nexus

SNPshotrs386134157
SNPdbers386134157
MSV3drs386134157
GWAS Ctlgrs386134157
Max Magnitude0
ClinVar
Risk rs386134157(G;G)
Alt rs386134157(G;G)
Reference rs386134157(A;A)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54385824A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000035003.2,


[PMID 22675081OA-icon.png] Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.