Mendelian Diseases
Multifactorial Diseases
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

Retinal cone dystrophy 3B

OMIM:610356
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa


Mutations

Gene SymbolKCNV2
Reference transcriptNM_133497.3
DNA Changec.1404delC
A.A. Changep.His468fsX503
Exon/Intronexon 2
Mutation Typedeletion
ReferenceBen Salah S, Kamei S, Senechal A, Lopez S, Bazalgette C, Bazalgette C, Eliaou CM, Zanlonghi X, Hamel CP.Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
Am J Ophthalmol. 2008 Jun;145(6):1099-106.