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Gene entry

PEX7

peroxisomal biogenesis factor 7

Chromosome
6
Cytoband
6q23.3
Variants (rsID)
24

PEX7 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q23.3). Its official name is “peroxisomal biogenesis factor 7”. The reference table lists 24 variants (rsID) for this gene.

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Clinically classified variants

7 reference-table entries with clinical significance.

  • rs113268723Benignsingle nucleotide variantPhytanic acid storage disease|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata|Connective tissue disorder
  • rs121909151Pathogenicsingle nucleotide variantRhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata
  • rs121909152Pathogenicsingle nucleotide variantRhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata
  • rs121909154Pathogenicsingle nucleotide variantPeroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata
  • rs148591292Pathogenicsingle nucleotide variantRhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|PEX7-Related Disorders|Rhizomelic chondrodysplasia punctata
  • rs1805137Pathogenicsingle nucleotide variantRhizomelic chondrodysplasia punctata type 1|PEX7-Related Disorders|Peroxisome biogenesis disorder 9B|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Phytanic acid storage disease
  • rs61753238Pathogenicsingle nucleotide variantPeroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|PEX7-Related Disorders|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Phytanic acid storage disease|Rhizomelic chondrodysplasia punctata

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.