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Gene entry

CYP17A1

cytochrome P450 family 17 subfamily A member 1

Chromosome
10
Cytoband
10q24.32
Variants (rsID)
15

CYP17A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q24.32). Its official name is “cytochrome P450 family 17 subfamily A member 1”. The reference table lists 15 variants (rsID) for this gene.

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Clinically classified variants

12 reference-table entries with clinical significance.

  • rs6162Benignsingle nucleotide variantDeficiency of steroid 17-alpha-monooxygenase
  • rs6163Benignsingle nucleotide variantDeficiency of steroid 17-alpha-monooxygenase
  • rs743572Benignsingle nucleotide variantDeficiency of steroid 17-alpha-monooxygenase
  • rs556794126Conflicting interpretationsDuplicationComplete combined 17-alpha-hydroxylase/17,20-lyase deficiency|Deficiency of steroid 17-alpha-monooxygenase|Congenital adrenal hyperplasia
  • rs104894153Likely pathogenicsingle nucleotide variantComplete combined 17-alpha-hydroxylase/17,20-lyase deficiency
  • rs104894135Pathogenicsingle nucleotide variantComplete combined 17-alpha-hydroxylase/17,20-lyase deficiency|Deficiency of steroid 17-alpha-monooxygenase
  • rs104894138Pathogenicsingle nucleotide variantComplete combined 17-alpha-hydroxylase/17,20-lyase deficiency|Deficiency of steroid 17-alpha-monooxygenase
  • rs104894139Pathogenicsingle nucleotide variantIsolated 17,20-lyase deficiency|Congenital adrenal hyperplasia
  • rs104894143Pathogenicsingle nucleotide variantComplete combined 17-alpha-hydroxylase/17,20-lyase deficiency
  • rs104894144Pathogenicsingle nucleotide variantComplete combined 17-alpha-hydroxylase/17,20-lyase deficiency
  • rs104894154Pathogenicsingle nucleotide variantComplete combined 17-alpha-hydroxylase/17,20-lyase deficiency|Deficiency of steroid 17-alpha-monooxygenase
  • rs61754278Pathogenicsingle nucleotide variantIsolated 17,20-lyase deficiency|Deficiency of steroid 17-alpha-monooxygenase

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.