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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 06-09-2010 |
Symbol | CORD12 | ||
Location | 4p15.32 | ||
HGNC id | 9454 | ||
Name | cone-rod dystrophy type 12 | ||
Corresponding gene | PROM1 | ||
Main clinical features |
| ||
Genetic determination
Function/system disorder
| Type
| disease
| |
Gene product |
Name | prominin 1 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
|  
| R373C
| |
Remark(s) |