ABCA4

Gene name: ATP-binding cassette, sub-family A (ABC1), member 4
OMIM ID: 601691
Chromosome location: 1p22.1

Mutations

Disease/Phenotype	Cone-Rode Dystrophy 3
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.

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  Variant not named according to HGVS recommendations