Gene entry
PEX12
peroxisomal biogenesis factor 12
- Chromosome
- 17
- Cytoband
- 17q12
- Variants (rsID)
- 5
PEX12 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q12). Its official name is “peroxisomal biogenesis factor 12”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs147530802Benignsingle nucleotide variantPeroxisome biogenesis disorder type 3B|Peroxisome biogenesis disorder 3A (Zellweger)
- rs187526749Conflicting interpretationssingle nucleotide variantPeroxisome biogenesis disorder 3A (Zellweger)|Peroxisome biogenesis disorder
- rs28936697Pathogenicsingle nucleotide variantPeroxisomal biogenesis disorder 3b|Peroxisome biogenesis disorder 3A (Zellweger)|Peroxisome biogenesis disorder
- rs200413804Uncertain significancesingle nucleotide variantPeroxisome biogenesis disorder type 3B|Peroxisome biogenesis disorder 3A (Zellweger)
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.