Spinocerebellar ataxia 7
OMIM:164500Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | ATXN7 |
|---|---|
| DNA Change | 64 CAG repeats |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | repeat |
| Reference | Lindblad K, Savontaus ML, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptacek LJ, Anttinen A, Brice A, Schalling M.An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res. 1996 Oct;6(10):965-71. |
Variant not named according to HGVS recommendations