LCA5
Gene name: Leber congenital amaurosis 5OMIM ID: 611408
Chromosome location: 6q14.1
Mutations
| Disease/Phenotype | Leber congenital amaurosis 5 |
|---|---|
| Reference transcript | NM_181714.3 |
| DNA Change | c.1186G>T |
| A.A. Change | p.Glu396Stop |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Gerber S, Hanein S, Perrault I, Delphin N, Aboussair N, Leowski C, Dufier JL, Roche O, Munnich A, Kaplan J, Rozet JM.Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. Hum Mutat. 2007 Dec;28(12):1245. |
| Disease/Phenotype | Leber congenital amaurosis 5 |
|---|---|
| Reference transcript | NM_181714.3 |
| DNA Change | c.1476dupA |
| A.A. Change | p.Pro493ThrfsX2 |
| Exon/Intron | exon 9 |
| Mutation Type | duplication |
| Reference | den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, et al,Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet. 2007 Jul;39(7):889-95. |