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Gene entry

COL11A1

collagen type XI alpha 1 chain

Chromosome
1
Cytoband
1p21.1
Variants (rsID)
51

COL11A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p21.1). Its official name is “collagen type XI alpha 1 chain”. The reference table lists 51 variants (rsID) for this gene.

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Clinically classified variants

12 reference-table entries with clinical significance.

  • rs11164663Benignsingle nucleotide variantFibrochondrogenesis 1|Stickler syndrome type 2
  • rs115558182Benignsingle nucleotide variant
  • rs12731843Benignsingle nucleotide variant
  • rs3753841Benignsingle nucleotide variantStickler syndrome type 2|Fibrochondrogenesis 1|Hearing loss, autosomal dominant 37|Marshall syndrome
  • rs141978499Conflicting interpretationssingle nucleotide variantStickler syndrome type 2|Fibrochondrogenesis 1|Connective tissue disorder
  • rs143651470Conflicting interpretationssingle nucleotide variantFibrochondrogenesis 1|Stickler syndrome type 2
  • rs144884147Conflicting interpretationssingle nucleotide variantFibrochondrogenesis 1|Stickler syndrome type 2
  • rs151249006Conflicting interpretationssingle nucleotide variantFibrochondrogenesis 1|Stickler syndrome type 2
  • rs56230601Conflicting interpretationssingle nucleotide variantStickler syndrome type 2|Fibrochondrogenesis 1
  • rs78046647Conflicting interpretationssingle nucleotide variantConnective tissue disorder
  • rs398122828Pathogenicsingle nucleotide variantMarshall syndrome|Inborn genetic diseases
  • rs202065765Uncertain significancesingle nucleotide variantStickler syndrome type 2|Fibrochondrogenesis 1

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.