ATXN7
Gene name: ataxin 7OMIM ID: 607640
Chromosome location: 3p14.1
Mutations
Disease/Phenotype | Spinocerebellar ataxia 7 |
---|---|
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. |
 
![](images/nhgvs.png)