Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z


Gene name: retinitis pigmentosa GTPase regulator interacting protein 1
OMIM ID: 605446
Chromosome location: 14q11


Disease/PhenotypeLeber congenital amaurosis 6
Reference transcriptNM_020366.3
DNA Changec.2237G>A
A.A. Changep.Gly746Glu
Exon/Intronexon 15
Mutation Typesubstitution
ReferenceGerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I, Martin-Coignard D, Leowski C, Homfray T, Dufier JL, Munnich A, Kaplan J, Rozet JM.Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
Eur J Hum Genet. 2001 Aug;9(8):561-71.