Deafness, autosomal recessive 63
OMIM:611451Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the ear and mastoid process
Mutations
| Gene Symbol | LRTOMT |
|---|---|
| Reference transcript | NM_001145308.4 |
| DNA Change | c.242G>A |
| A.A. Change | p.Arg81Gln |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Charif 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. |