Gene entry
PEX1
peroxisomal biogenesis factor 1
- Chromosome
- 7
- Cytoband
- 7q21.2
- Variants (rsID)
- 20
PEX1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q21.2). Its official name is “peroxisomal biogenesis factor 1”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs10236856Benignsingle nucleotide variantPeroxisome biogenesis disorder 1A (Zellweger)
- rs142838522Benignsingle nucleotide variantZellweger spectrum disorders
- rs2066743Benignsingle nucleotide variantPeroxisome biogenesis disorder 1A (Zellweger)|Zellweger spectrum disorders
- rs34825053Benignsingle nucleotide variantPeroxisome biogenesis disorder 1A (Zellweger)|Zellweger spectrum disorders
- rs121434455Conflicting interpretationssingle nucleotide variantPeroxisome biogenesis disorder 1A (Zellweger)|Zellweger spectrum disorders|Heimler syndrome 1|Peroxisome biogenesis disorder 1B|Peroxisome biogenesis disorder 1A (Zellweger)
- rs144825021Conflicting interpretationssingle nucleotide variantPeroxisome biogenesis disorder 1A (Zellweger)|Microcephaly|Zellweger spectrum disorders
- rs145430946Conflicting interpretationssingle nucleotide variantPeroxisome biogenesis disorder 1A (Zellweger)|Zellweger spectrum disorders
- rs377337949Conflicting interpretationssingle nucleotide variantPeroxisome biogenesis disorder 1A (Zellweger)|Zellweger spectrum disorders
- rs267608179Pathogenicsingle nucleotide variantPeroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 1B|Peroxisome biogenesis disorder 1B|Peroxisome biogenesis disorder 1A (Zellweger)|Zellweger spectrum disorders
- rs61750418Pathogenicsingle nucleotide variantPeroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder 1B|Zellweger spectrum disorders|Peroxisome biogenesis disorder
- rs61750420Pathogenicsingle nucleotide variantPeroxisome biogenesis disorder|Leber congenital amaurosis|Peroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder 1B|Heimler syndrome 1|Peroxisome biogenesis disorder 1B|Heimler syndrome 1|Peroxisome biogenesis disorder 1A (Zellweger)|Peroxisomal disorder|Peroxisome biogenesis disorder 1B|Peroxisome biogenesis disorder 1A (Zellweger)|Retinal dystrophy|Inborn genetic diseases|Zellweger spectrum disorders
- rs61750426PathogenicDeletionPeroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 1B|Peroxisome biogenesis disorder 1A (Zellweger)|Zellweger spectrum disorders
- rs762324548PathogenicDeletionHeimler syndrome 1|Peroxisome biogenesis disorder 1A (Zellweger)|Zellweger spectrum disorders
- rs185115432Uncertain significancesingle nucleotide variantZellweger spectrum disorders
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.