Gene entry
NAGLU
N-acetyl-alpha-glucosaminidase
- Chromosome
- 17
- Cytoband
- 17q21.2
- Variants (rsID)
- 9
NAGLU is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q21.2). Its official name is “N-acetyl-alpha-glucosaminidase”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs61737294Benignsingle nucleotide variantMucopolysaccharidosis, MPS-III-B|Mucopolysaccharidosis, MPS-III-B|Charcot-Marie-Tooth disease axonal type 2V
- rs796052122Likely pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2V|Mucopolysaccharidosis, MPS-III-B|Charcot-Marie-Tooth disease axonal type 2V
- rs104894590Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-B|Charcot-Marie-Tooth disease axonal type 2V|Mucopolysaccharidosis, MPS-III-B
- rs104894591Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-B|Mucopolysaccharidosis, MPS-III-B|Charcot-Marie-Tooth disease axonal type 2V
- rs104894592Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-B|Mucopolysaccharidosis|Charcot-Marie-Tooth disease axonal type 2V|Mucopolysaccharidosis, MPS-III-B
- rs104894595Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-B|Mucopolysaccharidosis|Charcot-Marie-Tooth disease axonal type 2V|Mucopolysaccharidosis, MPS-III-B
- rs104894597Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-B|Charcot-Marie-Tooth disease axonal type 2V|Mucopolysaccharidosis, MPS-III-B
- rs104894598Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-B|Mucopolysaccharidosis, MPS-III-B|Charcot-Marie-Tooth disease axonal type 2V
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.