rs201337954

plus

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

Reference

GRCh38 38.1/142

Chromosome

3

Position

25733931

Gene

NGLY1

is a	snp
is	mentioned by
dbSNP	rs201337954
dbSNP (classic)	rs201337954
ClinGen	rs201337954
ebi	rs201337954
HLI	rs201337954
Exac	rs201337954
Gnomad	rs201337954
Varsome	rs201337954
LitVar	rs201337954
Map	rs201337954
PheGenI	rs201337954
Biobank	rs201337954
1000 genomes	rs201337954
hgdp	rs201337954
ensembl	rs201337954
geneview	rs201337954
scholar	rs201337954
google	rs201337954
pharmgkb	rs201337954
gwascentral	rs201337954
openSNP	rs201337954
23andMe	rs201337954
SNPshot	rs201337954
SNPdbe	rs201337954
MSV3d	rs201337954
GWAS Ctlg	rs201337954

Max Magnitude

8

rs201337954, also known as Arg401Ter or R401X, is a mutation in the NGLY1 gene encoding N-glycanase. In the orientation currently given in dbSNP, which on the forward strand compared to the gene which is on the bottom strand, the rs201337954(A) allele is the quite rare nonsense allele leading to a defective N-glycanase. Carriers of one such allele are generally unaffected, but if the other allele is defective, this leads to congenital disorder of deglycosylation (CDDG).

Be wary of ambiguous flips with this SNP due to orientation issues.

ClinVar
Risk	Rs201337954(A;A) rs201337954(C;C)
Alt	Rs201337954(A;A) rs201337954(C;C)
Reference	Rs201337954(T;T)
Significance	Pathogenic
Disease	Congenital disorder of deglycosylation not provided
Variation	info
Gene	NGLY1
CLNDBN	Congenital disorder of deglycosylation not provided
Reversed	0
HGVS	NC_000003.11:g.25775422T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043663.5, RCV000309063.1,