rs587777465

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(C;C)	9	Pontocerebellar hypoplasia type 2E
(C;T)	3	Carrier of a Pontocerebellar hypoplasia type 2E mutation
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

17

Position

532843

Gene

VPS53

is a	snp
is	mentioned by
dbSNP	rs587777465
dbSNP (classic)	rs587777465
ClinGen	rs587777465
ebi	rs587777465
HLI	rs587777465
Exac	rs587777465
Gnomad	rs587777465
Varsome	rs587777465
LitVar	rs587777465
Map	rs587777465
PheGenI	rs587777465
Biobank	rs587777465
1000 genomes	rs587777465
hgdp	rs587777465
ensembl	rs587777465
geneview	rs587777465
scholar	rs587777465
google	rs587777465
pharmgkb	rs587777465
gwascentral	rs587777465
openSNP	rs587777465
23andMe	rs587777465
SNPshot	rs587777465
SNPdbe	rs587777465
MSV3d	rs587777465
GWAS Ctlg	rs587777465

Max Magnitude

9

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

ClinVar
Risk	Rs587777465(C;C) Rs587777465(T;T)
Alt	Rs587777465(C;C) Rs587777465(T;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 UniProtKB (protein)
CLNACC	RCV000128407.2,