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GENATLAS PHENOTYPE |
last update : 06-07-2011 |
Symbol | LCA12 |
Location | 1q32.3 |
Name | Leber congenital amaurosis, type 12 |
Corresponding gene | RD3 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | eye |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| abnormal splicing
|  
| truncated protein
|  
| |
Remark(s) | . mutation in the RD3 gene that also causes premature protein truncation is responsible for Leber congenital amaurosis type 12 (PMID: 21078983)) |