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GENATLAS PHENOTYPE
last update : 17-02-2012
Symbol CSNB7
Location 3p21.2
Name blindness night congenital, stationary 7, Nougaret type
Corresponding gene GNAT1
Other symbol(s) CSNBAD3
Main clinical features lack of night vision, with normal day vision
Genetic determination autosomal dominant
Function/system disorder eye
Type disease
Gene product
Name retinal rod cells, alpha-transducin (GNAT1), nt 38G>A
Remark(s)