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rs386134170

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs386134170(GC;TT)
Make rs386134170(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome19
Position53889937
GenePRKCG
is asnp
is mentioned by
dbSNPrs386134170
ebirs386134170
HLIrs386134170
Exacrs386134170
Varsomers386134170
Maprs386134170
PheGenIrs386134170
hapmaprs386134170
1000 genomesrs386134170
hgdprs386134170
ensemblrs386134170
gopubmedrs386134170
geneviewrs386134170
scholarrs386134170
googlers386134170
pharmgkbrs386134170
gwascentralrs386134170
openSNPrs386134170
23andMers386134170
23andMe allrs386134170
SNP Nexus

SNPshotrs386134170
SNPdbers386134170
MSV3drs386134170
GWAS Ctlgrs386134170
Max Magnitude0
ClinVar
Risk rs386134170(TT;TT)
Alt rs386134170(TT;TT)
Reference rs386134170(GC;GC)
Significance Pathogenic
Disease Spinocerebellar ataxia 14
Variation info
Gene PRKCG
CLNDBN Spinocerebellar ataxia 14
Reversed 0
HGVS NC_000019.9:g.54393191_54393192delGCinsTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034997.1,


[PMID 16291902OA-icon.png] Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.