Usher syndrome type 1B
OMIM:276900Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa
Mutations
| Gene Symbol | MYO7A |
|---|---|
| Reference transcript | NM_000260.2 |
| DNA Change | c.1687G>A |
| A.A. Change | p.G563S |
| Exon/Intron | exon 14 |
| Mutation Type | substitution |
| Reference | Boulouiz 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. |