| Phenotype: | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
|---|---|
| Dna Change: | g.4339delG |
| Protein Change: | |
| Mutation Type: | Deletion |
| Mutation Effect: | Frameshift |
| Location: | exon 2 |
| Transcript: | NM_000104.3 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Morocco | NA | NA | 9 patients/32 patients | between 900 and 1700 years | Belmouden A et al., 2002Belmouden A, Melki R, Hamdani M, Zaghloul K, Amraoui A, Nadifi S, Akhayat O, Garchon HJ, . A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.. Clin. Genet.. 2002; 62(4):334-9 |
Belmouden A, Melki R, Hamdani M, Zaghloul K, Amraoui A, Nadifi S, Akhayat O, Garchon HJ, A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.Clin. Genet.. 2002; 62(4):334-9