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Gene entry

CYP27B1

cytochrome P450 family 27 subfamily B member 1

Chromosome
12
Cytoband
12q14.1
Variants (rsID)
16

CYP27B1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q14.1). Its official name is “cytochrome P450 family 27 subfamily B member 1”. The reference table lists 16 variants (rsID) for this gene.

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Clinically classified variants

7 reference-table entries with clinical significance.

  • rs28934604Likely pathogenicsingle nucleotide variantVitamin D-dependent rickets, type 1|Vitamin D-dependent rickets, type 1A
  • rs118204008Pathogenicsingle nucleotide variantVitamin D-dependent rickets, type 1A
  • rs118204009Pathogenicsingle nucleotide variantVitamin D-dependent rickets, type 1|Vitamin D-dependent rickets, type 1A
  • rs118204010Pathogenicsingle nucleotide variantVitamin D-dependent rickets, type 1A
  • rs118204012Pathogenicsingle nucleotide variantVitamin D-dependent rickets, type 1A
  • rs28934606Pathogenicsingle nucleotide variantVitamin D-dependent rickets, type 1A
  • rs761780097Pathogenicsingle nucleotide variantVitamin D-dependent rickets, type 1A

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.