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

Deafness, autosomal recessive 63

OMIM:611451
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the ear and mastoid process


Mutations

Gene SymbolLRTOMT
Reference transcriptNM_001145308.4
DNA Changec.242G>A
A.A. Changep.Arg81Gln
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceCharif M, Bounaceur S, Abidi O, Nahili H, Rouba H, Kandil M, Boulouiz R, Barakat A.The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population
Mol Biol Rep. 2012 Oct 8.