Gene entry
AHCY
adenosylhomocysteinase
- Chromosome
- 20
- Cytoband
- 20q11.22
- Variants (rsID)
- 15
AHCY is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q11.22). Its official name is “adenosylhomocysteinase”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs819146Benignsingle nucleotide variantHypermethioninemia|Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- rs121918608Pathogenicsingle nucleotide variantHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase|Inborn genetic diseases|Rhabdomyolysis
- rs150066229Uncertain significancesingle nucleotide variantHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
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.