Leber congenital amaurosis 6
OMIM:613826Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa
Mutations
| Gene Symbol | RPGRIP1 |
|---|---|
| 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. |