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rs587777466

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Pontocerebellar hypoplasia type 2E mutation
(G;G) 0 common in clinvar
(T;T) 9 Pontocerebellar hypoplasia type 2E
ReferenceGRCh38 38.1/142
Chromosome17
Position562498
GeneVPS53
is asnp
is mentioned by
dbSNPrs587777466
ebirs587777466
HLIrs587777466
Exacrs587777466
Varsomers587777466
Maprs587777466
PheGenIrs587777466
hapmaprs587777466
1000 genomesrs587777466
hgdprs587777466
ensemblrs587777466
gopubmedrs587777466
geneviewrs587777466
scholarrs587777466
googlers587777466
pharmgkbrs587777466
gwascentralrs587777466
openSNPrs587777466
23andMers587777466
23andMe allrs587777466
SNP Nexus

SNPshotrs587777466
SNPdbers587777466
MSV3drs587777466
GWAS Ctlgrs587777466
Max Magnitude9

VPS53 mutation, known as c.1556+5G>A, leading to Pontocerebellar hypoplasia type 2E

ClinVar
Risk rs587777466(C,T;C,T)
Alt rs587777466(C,T;C,T)
Reference rs587777466(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene VPS53
CLNDBN Pontocerebellar hypoplasia, type 2e
Reversed 1
HGVS NC_000017.10:g.465738C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128408.3,