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rs386134166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386134166(C;C)
Make rs386134166(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889743
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134166
ebirs386134166
HLIrs386134166
Exacrs386134166
Varsomers386134166
Maprs386134166
PheGenIrs386134166
hapmaprs386134166
1000 genomesrs386134166
hgdprs386134166
ensemblrs386134166
gopubmedrs386134166
geneviewrs386134166
scholarrs386134166
googlers386134166
pharmgkbrs386134166
gwascentralrs386134166
openSNPrs386134166
23andMers386134166
23andMe allrs386134166
SNP Nexus

SNPshotrs386134166
SNPdbers386134166
MSV3drs386134166
GWAS Ctlgrs386134166
Max Magnitude0
ClinVar
Risk rs386134166(A,C;A,C)
Alt rs386134166(A,C;A,C)
Reference rs386134166(T;T)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54392997T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034993.2,


[PMID 16649092] Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.