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Gene entry

COL4A1

collagen type IV alpha 1 chain

Chromosome
13
Cytoband
13q34
Variants (rsID)
81

COL4A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q34). Its official name is “collagen type IV alpha 1 chain”. The reference table lists 81 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs1133219Benignsingle nucleotide variantPorencephalic cyst|Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome|Brain small vessel disease 1 with or without ocular anomalies
  • rs146329532Benignsingle nucleotide variant
  • rs2275843Benignsingle nucleotide variantPorencephalic cyst|Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome|Brain small vessel disease 1 with or without ocular anomalies
  • rs3742207Benignsingle nucleotide variantPorencephalic cyst|Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome|Brain small vessel disease 1 with or without ocular anomalies
  • rs75711155Benignsingle nucleotide variantPorencephalic cyst|Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome|Brain small vessel disease 1 with or without ocular anomalies
  • rs183563055Conflicting interpretationssingle nucleotide variantPorencephalic cyst|Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome|Brain small vessel disease 1 with or without ocular anomalies
  • rs189728415Conflicting interpretationssingle nucleotide variantAutosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome|Brain small vessel disease 1 with or without ocular anomalies
  • rs199586038Conflicting interpretationssingle nucleotide variantAutosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome|Brain small vessel disease 1 with or without ocular anomalies
  • rs587780588Pathogenicsingle nucleotide variantCerebral calcification|Intracranial hemorrhage|Intraventricular hemorrhage|Abnormal corpus callosum morphology|Brain small vessel disease 1 with or without ocular anomalies

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.