RPGRIP1

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

Mutations

Disease/Phenotype	Leber congenital amaurosis 6
Reference transcript	NM_020366.3
DNA Change	c.2237G>A
A.A. Change	p.Gly746Glu
Exon/Intron	exon 15
Mutation Type	substitution
Reference	Gerber 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.

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