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Gene entry

CYP11A1

cytochrome P450 family 11 subfamily A member 1

Chromosome
15
Cytoband
15q24.1
Variants (rsID)
11

CYP11A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q24.1). Its official name is “cytochrome P450 family 11 subfamily A member 1”. The reference table lists 11 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

  • rs4986873Benignsingle nucleotide variantCongenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • rs121912812Pathogenicsingle nucleotide variantCongenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • rs72547508Pathogenicsingle nucleotide variantCongenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

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.