rs201337954
A SNP in the NGLY1 gene on chromosome 3. Its most notable genotype is A;A: Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
- Gene
- NGLY1
- Location
- Chr 325,733,931 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadHomozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
- A;TBadunaffected carrier of a defective NGLY1 gene allele
- T;TGoodcommon
On SNPedia: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other NGLY1 SNPs
- rs528583612A;AHomozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)Very important
- rs587776982-;-Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)Very important
- rs587777265C;CHomozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)Very important
- rs587777266-;-Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)Very important
Notes
From SNPedia
Show notes, about 140 words
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.
A;A
Two defective copies of the NGLY1 gene, leading to congenital disorder of deglycosylation (CDDG). However, due to orientation issues, this may be spurious and should be confirmed.
A;T
Unaffected carrier (assuming the other NGLY1 allele is normal) of an allele which is associated with congenital disorder of deglycosylation
Source and license
Adapted from rs201337954 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.