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rs587777465

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(C;C) 9 Pontocerebellar hypoplasia type 2E
(C;T) 3 Carrier of a Pontocerebellar hypoplasia type 2E mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome17
Position532843
GeneVPS53
is asnp
is mentioned by
dbSNPrs587777465
ebirs587777465
HLIrs587777465
Exacrs587777465
Varsomers587777465
Maprs587777465
PheGenIrs587777465
hapmaprs587777465
1000 genomesrs587777465
hgdprs587777465
ensemblrs587777465
gopubmedrs587777465
geneviewrs587777465
scholarrs587777465
googlers587777465
pharmgkbrs587777465
gwascentralrs587777465
openSNPrs587777465
23andMers587777465
23andMe allrs587777465
SNP Nexus

SNPshotrs587777465
SNPdbers587777465
MSV3drs587777465
GWAS Ctlgrs587777465
Max Magnitude9

VPS53 mutation, known as c.2084A>G (p.Gln695Arg), leading to Pontocerebellar hypoplasia type 2E

ClinVar
Risk rs587777465(C,T;C,T)
Alt rs587777465(C,T;C,T)
Reference rs587777465(A;A)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene VPS53
CLNDBN Pontocerebellar hypoplasia, type 2e
Reversed 1
HGVS NC_000017.10:g.436083T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000128407.2,