rs587777466

Orientation

plus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

17

Position

562498

Gene

VPS53

is a	snp
is	mentioned by
dbSNP	rs587777466
dbSNP (classic)	rs587777466
ClinGen	rs587777466
ebi	rs587777466
HLI	rs587777466
Exac	rs587777466
Gnomad	rs587777466
Varsome	rs587777466
LitVar	rs587777466
Map	rs587777466
PheGenI	rs587777466
Biobank	rs587777466
1000 genomes	rs587777466
hgdp	rs587777466
ensembl	rs587777466
geneview	rs587777466
scholar	rs587777466
google	rs587777466
pharmgkb	rs587777466
gwascentral	rs587777466
openSNP	rs587777466
23andMe	rs587777466
SNPshot	rs587777466
SNPdbe	rs587777466
MSV3d	rs587777466
GWAS Ctlg	rs587777466

Max Magnitude

9

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

ClinVar
Risk	Rs587777466(C;C) Rs587777466(T;T)
Alt	Rs587777466(C;C) Rs587777466(T;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,