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Gene entry

COL4A5

collagen type IV alpha 5 chain

Chromosome
X
Cytoband
Xq22.3
Variants (rsID)
31

COL4A5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq22.3). Its official name is “collagen type IV alpha 5 chain”. The reference table lists 31 variants (rsID) for this gene.

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Clinically classified variants

15 reference-table entries with clinical significance.

  • rs1006269Benignsingle nucleotide variantX-linked Alport syndrome
  • rs144282156Benignsingle nucleotide variantX-linked Alport syndrome
  • rs61746140Benignsingle nucleotide variantX-linked Alport syndrome
  • rs201220208Conflicting interpretationssingle nucleotide variant
  • rs104886043Pathogenicsingle nucleotide variantX-linked Alport syndrome
  • rs104886091Pathogenicsingle nucleotide variantX-linked Alport syndrome
  • rs104886093Pathogenicsingle nucleotide variant
  • rs104886096Pathogenicsingle nucleotide variantX-linked Alport syndrome
  • rs104886121Pathogenicsingle nucleotide variantX-linked Alport syndrome
  • rs104886142Pathogenicsingle nucleotide variantX-linked Alport syndrome|Hypertensive disorder|Mild proteinuria|Glomerulopathy|Alport syndrome
  • rs104886189Pathogenicsingle nucleotide variantX-linked Alport syndrome|Alport syndrome|Atypical hemolytic-uremic syndrome|Autosomal dominant Alport syndrome
  • rs104886229Pathogenicsingle nucleotide variantX-linked Alport syndrome
  • rs104886286Pathogenicsingle nucleotide variantAlport syndrome
  • rs104886303Pathogenicsingle nucleotide variantX-linked Alport syndrome|Alport syndrome
  • rs281874761Pathogenicsingle nucleotide variantX-linked Alport syndrome

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.