Gene entry
AGA
aspartylglucosaminidase
- Chromosome
- 4
- Cytoband
- 4q34.3
- Variants (rsID)
- 11
AGA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q34.3). Its official name is “aspartylglucosaminidase”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs76491548Benignsingle nucleotide variantAspartylglucosaminuria
- rs142449515Conflicting interpretationssingle nucleotide variantAspartylglucosaminuria
- rs146381591Conflicting interpretationssingle nucleotide variantAspartylglucosaminuria|Intellectual disability
- rs74626221Conflicting interpretationssingle nucleotide variantAspartylglucosaminuria
- rs386833437Likely pathogenicsingle nucleotide variantAspartylglucosaminuria
- rs121964904Pathogenicsingle nucleotide variantAspartylglucosaminuria, finnish type|Aspartylglucosaminuria
- rs121964908Pathogenicsingle nucleotide variantAspartylglucosaminuria
- rs121964909Pathogenicsingle nucleotide variantAspartylglucosaminuria
- rs386833431Pathogenicsingle nucleotide variantAspartylglucosaminuria
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.