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rs386134168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386134168(A;A)
Make rs386134168(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889901
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134168
ebirs386134168
HLIrs386134168
Exacrs386134168
Varsomers386134168
Maprs386134168
PheGenIrs386134168
hapmaprs386134168
1000 genomesrs386134168
hgdprs386134168
ensemblrs386134168
gopubmedrs386134168
geneviewrs386134168
scholarrs386134168
googlers386134168
pharmgkbrs386134168
gwascentralrs386134168
openSNPrs386134168
23andMers386134168
23andMe allrs386134168
SNP Nexus

SNPshotrs386134168
SNPdbers386134168
MSV3drs386134168
GWAS Ctlgrs386134168
Max Magnitude0
ClinVar
Risk rs386134168(A,C;A,C)
Alt rs386134168(A,C;A,C)
Reference rs386134168(T;T)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54393155T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034996.2,


[PMID 16547918] Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.