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rs386134172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386134172(C;C)
Make rs386134172(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position53906729
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134172
ebirs386134172
HLIrs386134172
Exacrs386134172
Varsomers386134172
Maprs386134172
PheGenIrs386134172
hapmaprs386134172
1000 genomesrs386134172
hgdprs386134172
ensemblrs386134172
gopubmedrs386134172
geneviewrs386134172
scholarrs386134172
googlers386134172
pharmgkbrs386134172
gwascentralrs386134172
openSNPrs386134172
23andMers386134172
23andMe allrs386134172
SNP Nexus

SNPshotrs386134172
SNPdbers386134172
MSV3drs386134172
GWAS Ctlgrs386134172
Max Magnitude0
ClinVar
Risk rs386134172(C;C)
Alt rs386134172(C;C)
Reference rs386134172(T;T)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54409983T>C
CLNSRC GeneReviews
CLNACC RCV000034969.1,


[PMID 15313841] Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.


[PMID 16193476] New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.