CYP11B1
Gene name: cytochrome P450, family 11, subfamily B, polypeptide 2OMIM ID: 610613
Chromosome location: 8q21
Mutations
| Disease/Phenotype | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency |
|---|---|
| Reference transcript | NM_000497.3 |
| DNA Change | c.1337G>T |
| A.A. Change | p.Gly446Val |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Chabraoui L, Abid F, Menassa R, Gaouzi A, El Hessni A, Morel Y.Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population. Horm Res Paediatr. 2010;74(3):182-9. |
| Disease/Phenotype | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency |
|---|---|
| Reference transcript | NM_000497.3 |
| DNA Change | c.776C>A |
| A.A. Change | p.Ala259Asp |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Chabraoui L, Abid F, Menassa R, Gaouzi A, El Hessni A, Morel Y.Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population. Horm Res Paediatr. 2010;74(3):182-9. |
| Disease/Phenotype | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency |
|---|---|
| Reference transcript | NM_000497.3 |
| DNA Change | c.954+2T>G |
| A.A. Change | |
| Exon/Intron | intron 5 |
| Mutation Type | substitution |
| Reference | Chabraoui L, Abid F, Menassa R, Gaouzi A, El Hessni A, Morel Y.Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population. Horm Res Paediatr. 2010;74(3):182-9. |