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Gene entry

C1R

complement C1r

Chromosome
12
Cytoband
12p13.31
Variants (rsID)
10

C1R is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12p13.31). Its official name is “complement C1r”. The reference table lists 10 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

  • rs139531404Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, periodontal type 1|Vascular dementia
  • rs760277934Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, periodontal type 1|Ehlers-Danlos syndrome, periodontal type 2
  • rs769707492Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, periodontal type 1|Ehlers-Danlos syndrome, periodontal type 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.