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Gene entry

COL1A2

collagen type I alpha 2 chain

Chromosome
7
Cytoband
7q21.3
Variants (rsID)
29

COL1A2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q21.3). Its official name is “collagen type I alpha 2 chain”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

19 reference-table entries with clinical significance.

  • rs114322680Benignsingle nucleotide variantOsteogenesis imperfecta|Ehlers-danlos syndrome, arthrochalasia type, 2|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type I
  • rs1801182Benignsingle nucleotide variantEhlers-danlos syndrome, arthrochalasia type, 2|Osteogenesis imperfecta|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome, classic type, 1
  • rs41316929Benignsingle nucleotide variantEhlers-danlos syndrome, arthrochalasia type, 2|Osteogenesis imperfecta|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type I
  • rs421587Benignsingle nucleotide variantEhlers-danlos syndrome, arthrochalasia type, 2|Osteogenesis imperfecta|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type I
  • rs42524Benignsingle nucleotide variantEhlers-danlos syndrome, arthrochalasia type, 2|Osteogenesis imperfecta|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type III|Osteogenesis imperfecta, recessive perinatal lethal|Osteogenesis imperfecta with normal sclerae, dominant form|Ehlers-Danlos syndrome
  • rs139446305Conflicting interpretationssingle nucleotide variantEhlers-danlos syndrome, arthrochalasia type, 2|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome, cardiac valvular type|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type I
  • rs142352627Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta type I|Ehlers-Danlos syndrome, classic type, 1|Ehlers-danlos syndrome, arthrochalasia type, 2|Osteogenesis imperfecta|Ehlers-Danlos syndrome
  • rs193922159Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type I
  • rs193922165Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta|Inborn genetic diseases|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type I
  • rs193922162Likely pathogenicsingle nucleotide variantOsteogenesis imperfecta
  • rs193922168Likely pathogenicsingle nucleotide variantOsteogenesis imperfecta
  • rs193922173Likely pathogenicsingle nucleotide variantOsteogenesis imperfecta
  • rs193922175Likely pathogenicMicrosatelliteOsteogenesis imperfecta
  • rs72658154Likely pathogenicsingle nucleotide variantOsteogenesis imperfecta
  • rs72656355Pathogenicsingle nucleotide variantEhlers-danlos syndrome, arthrochalasia type, 2|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome
  • rs72658151Pathogenicsingle nucleotide variant
  • rs72658161Pathogenicsingle nucleotide variant
  • rs72658176Pathogenicsingle nucleotide variantOsteogenesis imperfecta type III|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type I
  • rs72659319Pathogenicsingle nucleotide variantOsteogenesis imperfecta with normal sclerae, dominant form

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.