MYO7A
Gene name: myosin VIIAOMIM ID: 276903
Chromosome location: 11q13.5
Mutations
| Disease/Phenotype | Usher syndrome type 1B |
|---|---|
| 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. |