Gene entry
NGLY1
N-glycanase 1
- Chromosome
- 3
- Cytoband
- 3p24.2
- Variants (rsID)
- 12
NGLY1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p24.2). Its official name is “N-glycanase 1”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs201791209Conflicting interpretationssingle nucleotide variantCongenital disorder of deglycosylation|Neurodevelopmental delay
- rs146140738Pathogenicsingle nucleotide variantCongenital disorder of deglycosylation
- rs201337954Pathogenicsingle nucleotide variantCongenital disorder of deglycosylation
- rs587776982PathogenicDeletionCongenital disorder of deglycosylation
- rs187892679Uncertain significancesingle nucleotide variantCongenital disorder of deglycosylation
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.