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Gene entry

MBTPS2

membrane bound transcription factor peptidase, site 2

Chromosome
X
Cytoband
Xp22.12
Variants (rsID)
15

MBTPS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp22.12). Its official name is “membrane bound transcription factor peptidase, site 2”. The reference table lists 15 variants (rsID) for this gene.

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Clinically classified variants

5 reference-table entries with clinical significance.

  • rs122468176Pathogenicsingle nucleotide variantIFAP syndrome with or without BRESHECK syndrome
  • rs122468177Pathogenicsingle nucleotide variantIFAP syndrome with or without BRESHECK syndrome
  • rs122468178Pathogenicsingle nucleotide variantIFAP syndrome with or without BRESHECK syndrome
  • rs122468180Pathogenicsingle nucleotide variantIFAP syndrome with or without BRESHECK syndrome
  • rs587776867Pathogenicsingle nucleotide variantKeratosis follicularis spinulosa decalvans, X-linked

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.