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

Usher syndrome type 1B

OMIM:276900
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa


Mutations

Gene SymbolMYO7A
Reference transcriptNM_000260.2
DNA Changec.1687G>A
A.A. Changep.G563S
Exon/Intronexon 14
Mutation Typesubstitution
ReferenceBoulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A.Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.
Mol Vis. 2007 Oct 2;13:1862-5.