Gene entry
CYP11B2
cytochrome P450 family 11 subfamily B member 2
- Chromosome
- 8
- Cytoband
- 8q24.3
- Variants (rsID)
- 14
CYP11B2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q24.3). Its official name is “cytochrome P450 family 11 subfamily B member 2”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs1799998Associationsingle nucleotide variantAldosterone to renin ratio, increased
- rs28491316Benignsingle nucleotide variantGlucocorticoid-remediable aldosteronism|Corticosterone 18-monooxygenase deficiency|Corticosterone methyloxidase type 2 deficiency
- rs3802230Benignsingle nucleotide variantCorticosterone methyloxidase type 2 deficiency|Corticosterone 18-monooxygenase deficiency|Glucocorticoid-remediable aldosteronism
- rs4543Benignsingle nucleotide variantCorticosterone 18-monooxygenase deficiency|Glucocorticoid-remediable aldosteronism|Corticosterone methyloxidase type 2 deficiency|Corticosterone methyl oxidase type II deficiency
- rs4544Benignsingle nucleotide variantGlucocorticoid-remediable aldosteronism|Corticosterone methyloxidase type 2 deficiency|Corticosterone 18-monooxygenase deficiency|Corticosterone methyl oxidase type II deficiency
- rs4545Benignsingle nucleotide variantCorticosterone methyloxidase type 2 deficiency|Glucocorticoid-remediable aldosteronism|Corticosterone 18-monooxygenase deficiency|Corticosterone methyl oxidase type II deficiency
- rs5313Benignsingle nucleotide variantGlucocorticoid-remediable aldosteronism|Corticosterone methyloxidase type 2 deficiency|Corticosterone 18-monooxygenase deficiency|Corticosterone methyl oxidase type II deficiency
- rs61757295Benignsingle nucleotide variantCorticosterone 18-monooxygenase deficiency|Corticosterone methyloxidase type 2 deficiency|Glucocorticoid-remediable aldosteronism|Corticosterone methyl oxidase type II deficiency
- rs104894072Pathogenicsingle nucleotide variantCorticosterone 18-monooxygenase deficiency|Corticosterone 18-monooxygenase deficiency|Corticosterone methyloxidase type 2 deficiency
- rs72554627Pathogenicsingle nucleotide variantCorticosterone 18-monooxygenase 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.