Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ATXN7

Gene name: ataxin 7
OMIM ID: 607640
Chromosome location: 3p14.1

Mutations

Disease/PhenotypeSpinocerebellar ataxia 7
DNA Change64 CAG repeats
A.A. Change
Exon/Intron
Mutation Typerepeat
ReferenceLindblad 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