rs587777265

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(;)	0	common in clinvar
(-;-)	0	common
(-;C)	3	unaffected carrier of a defective NGLY1 gene allele
(C;C)	8	Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)

Reference

GRCh38 38.1/142

Chromosome

3

Position

25732374

Gene

NGLY1

is a	snp
is	mentioned by
dbSNP	rs587777265
dbSNP (classic)	rs587777265
ClinGen	rs587777265
ebi	rs587777265
HLI	rs587777265
Exac	rs587777265
Gnomad	rs587777265
Varsome	rs587777265
LitVar	rs587777265
Map	rs587777265
PheGenI	rs587777265
Biobank	rs587777265
1000 genomes	rs587777265
hgdp	rs587777265
ensembl	rs587777265
geneview	rs587777265
scholar	rs587777265
google	rs587777265
pharmgkb	rs587777265
gwascentral	rs587777265
openSNP	rs587777265
23andMe	rs587777265
SNPshot	rs587777265
SNPdbe	rs587777265
MSV3d	rs587777265
GWAS Ctlg	rs587777265

Max Magnitude

8

ClinVar
Risk	Rs587777265(C;C)
Alt	Rs587777265(C;C)
Reference	Rs587777265(-;-)
Significance	Pathogenic
Disease	Congenital disorder of deglycosylation
Variation	info
Gene	NGLY1
CLNDBN	Congenital disorder of deglycosylation
Reversed	0
HGVS	NC_000003.11:g.25773865dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000114362.4,