Gene entry
HGD
homogentisate 1,2-dioxygenase
- Chromosome
- 3
- Cytoband
- 3q13.33
- Variants (rsID)
- 24
HGD is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q13.33). Its official name is “homogentisate 1,2-dioxygenase”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs138846036Benignsingle nucleotide variantAlkaptonuria
- rs120074170Pathogenicsingle nucleotide variantAlkaptonuria
- rs120074171Pathogenicsingle nucleotide variantAlkaptonuria
- rs120074172Pathogenicsingle nucleotide variantAlkaptonuria
- rs120074173Pathogenicsingle nucleotide variantAlkaptonuria|Intervertebral disk calcification
- rs120074174Pathogenicsingle nucleotide variantAlkaptonuria
- rs28941783Pathogenicsingle nucleotide variantAlkaptonuria
- rs28942100Pathogenicsingle nucleotide variantAlkaptonuria
- rs397515346PathogenicDuplicationAlkaptonuria
- rs397515347Pathogenicsingle nucleotide variantAlkaptonuria
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.