CEP290
Gene name: centrosomal protein 290kDaOMIM ID: 610142
Chromosome location: 12q21.32
Mutations
| Disease/Phenotype | Leber congenital amaurosis 10 |
|---|---|
| Reference transcript | NM_025114.3 |
| DNA Change | c.1511_1514delGAGA |
| A.A. Change | Frameshift |
| Exon/Intron | exon 15 |
| Mutation Type | deletion |
| Reference | Aboussair N, Berahou A, Perrault I, Elalaoui SC, Megzari A, Rozet JM, Kaplan J, Sefiani A.[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation]. J Fr Ophtalmol. 2010 Feb;33(2):117.e1-5. |