rs587777266

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/142

Chromosome

3

Position

25733925

Gene

NGLY1

is a	snp
is	mentioned by
dbSNP	rs587777266
dbSNP (classic)	rs587777266
ClinGen	rs587777266
ebi	rs587777266
HLI	rs587777266
Exac	rs587777266
Gnomad	rs587777266
Varsome	rs587777266
LitVar	rs587777266
Map	rs587777266
PheGenI	rs587777266
Biobank	rs587777266
1000 genomes	rs587777266
hgdp	rs587777266
ensembl	rs587777266
geneview	rs587777266
scholar	rs587777266
google	rs587777266
pharmgkb	rs587777266
gwascentral	rs587777266
openSNP	rs587777266
23andMe	rs587777266
SNPshot	rs587777266
SNPdbe	rs587777266
MSV3d	rs587777266
GWAS Ctlg	rs587777266

Max Magnitude

8

ClinVar
Risk	Rs587777266(-;-)
Alt	Rs587777266(-;-)
Reference	Rs587777266(TTC;TTC)
Significance	Pathogenic
Disease	Congenital disorder of deglycosylation
Variation	info
Gene	NGLY1
CLNDBN	Congenital disorder of deglycosylation
Reversed	0
HGVS	NC_000003.11:g.25775416_25775418delTTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000114363.4,