Congenital Adrenal Hyperplasia, due to 21-Hydroxylase
OMIM:201910Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | CYP21A2 |
|---|---|
| DNA Change | Large conversion |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | others |
| Reference | Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation. Clin Chem Lab Med. 2008;46(12):1707-13. |
| Gene Symbol | CYP21A2 |
|---|---|
| DNA Change | Large lesions of the CYP21A2 gene |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | others |
| Reference | Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation. Clin Chem Lab Med. 2008;46(12):1707-13. |
| Gene Symbol | CYP21A2 |
|---|---|
| DNA Change | IVS2-13A/C>G |
| A.A. Change | |
| Exon/Intron | intron 2 |
| Mutation Type | substitution |
| Reference | Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation. Clin Chem Lab Med. 2008;46(12):1707-13. |
| Gene Symbol | CYP21A2 |
|---|---|
| Reference transcript | NM_000500.7 |
| DNA Change | c.952C>T |
| A.A. Change | p.Gln318X |
| Exon/Intron | exon 7 |
| Mutation Type | substitution |
| Reference | Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation. Clin Chem Lab Med. 2008;46(12):1707-13. |
| Gene Symbol | CYP21A2 |
|---|---|
| Reference transcript | NM_000500.7 |
| DNA Change | c.515T>A |
| A.A. Change | p.Ile172Asn |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation. Clin Chem Lab Med. 2008;46(12):1707-13. |
| Gene Symbol | CYP21A2 |
|---|---|
| Reference transcript | NM_000500.7 |
| DNA Change | c.1058T>G |
| A.A. Change | p.L353R |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation. Clin Chem Lab Med. 2008;46(12):1707-13. |
| Gene Symbol | CYP21A2 |
|---|---|
| Reference transcript | NM_000500.7 |
| DNA Change | c.841G>T |
| A.A. Change | p.V281L |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation. Clin Chem Lab Med. 2008;46(12):1707-13. |
Variant not named according to HGVS recommendations