Symbol
| RP27
|
Location
| 14q11.2
|
Name
|
retinitis pigmentosa 27 |
Corresponding gene
|
NRL
|
Other symbol(s)
| RP30
|
Main clinical features
|
night blindness since early childhood, and relatively enhanced function of short-wavelength-sensitive cones in the macula |
Genetic determination
| autosomal dominant |
| autosomal recessive |
Function/system disorder
| eye |
Type
| disease
|
Name
| neural retinal specific transcript (NRL), founder mutation S50T
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
missense
|  
| abnormal protein/loss of function
| mutation altering a conserved residue in the domain involved in DNA-binding site recognition
| |