Gene entry
ABHD12
abhydrolase domain containing 12, lysophospholipase
- Chromosome
- 20
- Cytoband
- 20p11.21
- Variants (rsID)
- 15
ABHD12 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20p11.21). Its official name is “abhydrolase domain containing 12, lysophospholipase”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs41306784Conflicting interpretationssingle nucleotide variantPHARC syndrome
- rs41309917Likely benignsingle nucleotide variantPHARC syndrome
- rs180761451Uncertain significancesingle nucleotide variantPHARC syndrome
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.