Gene entry
PORCN
porcupine O-acyltransferase
- Chromosome
- X
- Cytoband
- Xp11.23
- Variants (rsID)
- 5
PORCN is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp11.23). Its official name is “porcupine O-acyltransferase”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs137852218Pathogenicsingle nucleotide variantFocal dermal hypoplasia
- rs137852219Pathogenicsingle nucleotide variantFocal dermal hypoplasia
- rs267606973Pathogenicsingle nucleotide variantFocal dermal hypoplasia
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.