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GENATLAS PHENOTYPE |
last update : 17-10-2013 |
Symbol | BCAMD1 |
Location | 6q14.1 |
Name | benign concentric annular macular dystrophy 1 |
Corresponding gene | IMPG1 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | eye |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
|  
| mutation L579P
| |
Remark(s) |