Cone-Rode Dystrophy 3
OMIM:604116Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa
Mutations
| Gene Symbol | ABCA4 |
|---|---|
| DNA Change | IVS5-2A>G |
| A.A. Change | Frameshift |
| Exon/Intron | intron 5 |
| Mutation Type | substitution |
| Reference | Ducroq D, Rozet JM, Gerber S, Perrault I, Barbet D, Hanein S, Hakiki S, Dufier JL, Munnich A, Hamel C, Kaplan J.The ABCA4 gene in autosomal recessive cone-rod dystrophies. Am J Hum Genet. 2002 Dec;71(6):1480-2. |
Variant not named according to HGVS recommendations