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Gene entry

COL17A1

collagen type XVII alpha 1 chain

Chromosome
10
Cytoband
10q25.1
Variants (rsID)
14

COL17A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q25.1). Its official name is “collagen type XVII alpha 1 chain”. The reference table lists 14 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs117564807Benignsingle nucleotide variantJunctional epidermolysis bullosa, non-Herlitz type
  • rs805698Benignsingle nucleotide variantJunctional epidermolysis bullosa, non-Herlitz type|Epithelial recurrent erosion dystrophy
  • rs9425Benignsingle nucleotide variantJunctional epidermolysis bullosa, non-Herlitz type
  • rs73329731Likely benignsingle nucleotide variantJunctional epidermolysis bullosa, non-Herlitz type

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.