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Gene entry

COL4A4

collagen type IV alpha 4 chain

Chromosome
2
Cytoband
2q36.3
Variants (rsID)
44

COL4A4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q36.3). Its official name is “collagen type IV alpha 4 chain”. The reference table lists 44 variants (rsID) for this gene.

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Clinically classified variants

15 reference-table entries with clinical significance.

  • rs1800517Benignsingle nucleotide variantAlport syndrome|Autosomal recessive Alport syndrome
  • rs2272205Benignsingle nucleotide variantAutosomal recessive Alport syndrome
  • rs34761049Benignsingle nucleotide variantAlport syndrome
  • rs58363082Benignsingle nucleotide variantAutosomal recessive Alport syndrome
  • rs73082223Benignsingle nucleotide variant
  • rs13027659Conflicting interpretationssingle nucleotide variantAlport syndrome
  • rs147376687Conflicting interpretationssingle nucleotide variantAlport syndrome
  • rs1800519Conflicting interpretationssingle nucleotide variantAlport syndrome|Autosomal dominant Alport syndrome|Benign familial hematuria|Autosomal recessive Alport syndrome
  • rs181528936Conflicting interpretationssingle nucleotide variant
  • rs2229813Conflicting interpretationssingle nucleotide variantX-linked Alport syndrome|Alport syndrome|Autosomal recessive Alport syndrome
  • rs771943519Conflicting interpretationsDeletionAutosomal dominant Alport syndrome|Alport syndrome|Hematuria|Benign familial hematuria|Autosomal recessive Alport syndrome|Microscopic hematuria
  • rs11556632Likely benignsingle nucleotide variantAlport syndrome
  • rs786205640PathogenicDeletionAutosomal recessive Alport syndrome
  • rs142093416Uncertain significancesingle nucleotide variantAutosomal recessive Alport syndrome|Alport syndrome
  • rs201181725Uncertain significancesingle nucleotide variantAlport 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.