Gene entry
ABHD5
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
- Chromosome
- 3
- Cytoband
- 3p21.33
- Variants (rsID)
- 10
ABHD5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p21.33). Its official name is “abhydrolase domain containing 5, lysophosphatidic acid acyltransferase”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs148743497Benignsingle nucleotide variantTriglyceride storage disease with ichthyosis
- rs28939078Pathogenicsingle nucleotide variantTriglyceride storage disease with ichthyosis
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.