Gene entry
CYP11B1
cytochrome P450 family 11 subfamily B member 1
- Chromosome
- 8
- Cytoband
- 8q24.3
- Variants (rsID)
- 27
CYP11B1 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 1”. The reference table lists 27 variants (rsID) for this gene.
Clinically classified variants
13 reference-table entries with clinical significance.
- rs1134095Benignsingle nucleotide variantGlucocorticoid-remediable aldosteronism|Deficiency of steroid 11-beta-monooxygenase
- rs4534Benignsingle nucleotide variantGlucocorticoid-remediable aldosteronism|Deficiency of steroid 11-beta-monooxygenase
- rs4736312Benignsingle nucleotide variantDeficiency of steroid 11-beta-monooxygenase|Glucocorticoid-remediable aldosteronism
- rs5297Benignsingle nucleotide variantGlucocorticoid-remediable aldosteronism|Deficiency of steroid 11-beta-monooxygenase
- rs5303Benignsingle nucleotide variantGlucocorticoid-remediable aldosteronism|Deficiency of steroid 11-beta-monooxygenase
- rs7003319Benignsingle nucleotide variantDeficiency of steroid 11-beta-monooxygenase|Glucocorticoid-remediable aldosteronism
- rs193922540Conflicting interpretationssingle nucleotide variantCongenital adrenal hyperplasia|Deficiency of steroid 11-beta-monooxygenase|Glucocorticoid-remediable aldosteronism
- rs193922538Likely pathogenicsingle nucleotide variantCongenital adrenal hyperplasia
- rs193922539Likely pathogenicsingle nucleotide variantCongenital adrenal hyperplasia
- rs104894061Pathogenicsingle nucleotide variantDeficiency of steroid 11-beta-monooxygenase
- rs104894068Pathogenicsingle nucleotide variantDeficiency of steroid 11-beta-monooxygenase|Glucocorticoid-remediable aldosteronism
- rs149881706Pathogenicsingle nucleotide variantDeficiency of steroid 11-beta-monooxygenase
- rs28934586Pathogenicsingle nucleotide variantDeficiency of steroid 11-beta-monooxygenase|Glucocorticoid-remediable aldosteronism
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.