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GENATLAS PHENOTYPE |
last update : 23/05/2012 |
Symbol | ARRP15 |
Location | 1q41 |
Name | retinitis pigmentosa autosomal recessive, 15, non syndromic |
Corresponding gene | USH2A |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | eye |
Type | disease |
Gene product |
Name | usherin |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
|  
| mutation C759F
| missense
|  
|  
| c.2802T>G; p.C934W and c.8232G>C; p.W2744C in Chinese families (PMID:21686329)
| |
Remark(s) |