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Gene entry

COL12A1

collagen type XII alpha 1 chain

Chromosome
6
Cytoband
6q13-q14.1
Variants (rsID)
44

COL12A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q13-q14.1). Its official name is “collagen type XII alpha 1 chain”. The reference table lists 44 variants (rsID) for this gene.

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Clinically classified variants

20 reference-table entries with clinical significance.

  • rs139332405Benignsingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs201567848Benignsingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs240736Benignsingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2|Bethlem myopathy 2|Ullrich congenital muscular dystrophy 2
  • rs34369939Benignsingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs77094372Benignsingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs77425231Benignsingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs77654847Benignsingle nucleotide variantBethlem myopathy 2|Ullrich congenital muscular dystrophy 2
  • rs79830915Benignsingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs970547Benignsingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2|Ullrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs141593495Conflicting interpretationssingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs186328815Conflicting interpretationssingle nucleotide variantBethlem myopathy 2|Ullrich congenital muscular dystrophy 2
  • rs199724285Conflicting interpretationssingle nucleotide variantBethlem myopathy 2|Ullrich congenital muscular dystrophy 2
  • rs201408175Conflicting interpretationssingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2|Cataract 16 multiple types
  • rs796052093Pathogenicsingle nucleotide variantBethlem myopathy 2|Ullrich congenital muscular dystrophy 2|Ullrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs116980451Uncertain significancesingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs180718181Uncertain significancesingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs190917891Uncertain significancesingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs200487396Uncertain significancesingle nucleotide variantBethlem myopathy 2|Ullrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs200828190Uncertain significancesingle nucleotide variantUllrich congenital muscular dystrophy 2|Bethlem myopathy 2
  • rs201372309Uncertain significancesingle nucleotide variantBethlem myopathy 2|Ullrich congenital muscular dystrophy 2

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.