Usher syndrome, type 2A
OMIM:276901Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa
Mutations
| Gene Symbol | USH2A |
|---|---|
| Reference transcript | NM_007123.5 |
| DNA Change | c.1000C>T |
| A.A. Change | p.Arg334Trp |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Adato A, Weston MD, Berry A, Kimberling WJ, Bonne-Tamir A.Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. Hum Mutat. 2000 Apr;15(4):388. |
| Gene Symbol | USH2A |
|---|---|
| Reference transcript | NM_007123.5 |
| DNA Change | c.4544C>T |
| A.A. Change | p.Thr1515Met |
| Exon/Intron | exon 21 |
| Mutation Type | substitution |
| Reference | Adato A, Weston MD, Berry A, Kimberling WJ, Bonne-Tamir A.Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. Hum Mutat. 2000 Apr;15(4):388. |