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rs201337954

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/142
Chromosome3
Position25733931
GeneNGLY1
is asnp
is mentioned by
dbSNPrs201337954
ebirs201337954
HLIrs201337954
Exacrs201337954
Varsomers201337954
Maprs201337954
PheGenIrs201337954
hapmaprs201337954
1000 genomesrs201337954
hgdprs201337954
ensemblrs201337954
gopubmedrs201337954
geneviewrs201337954
scholarrs201337954
googlers201337954
pharmgkbrs201337954
gwascentralrs201337954
openSNPrs201337954
23andMers201337954
23andMe allrs201337954
SNP Nexus

SNPshotrs201337954
SNPdbers201337954
MSV3drs201337954
GWAS Ctlgrs201337954
Max Magnitude8

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,C;A,C)
Alt rs201337954(A,C;A,C)
Reference rs201337954(T;T)
Significance Pathogenic
Disease Congenital disorder of deglycosylation
Variation info
Gene NGLY1
CLNDBN Congenital disorder of deglycosylation
Reversed 0
HGVS NC_000003.11:g.25775422T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043663.5,