STRs database » ATXN3 locus
Gene ATXN3
Location Coding in 14q32.1
Reference region chr14:92071010-92071040 (hg38)
chr14:92537354-92537384 (hg19)
Repeat unit CAG
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

Expansions in the ATXN3 gene cause spinocerebellar ataxia type 3 (SCA3), also known as the Machado-Joseph disease (MJD) which is a neurodegenerative disease (Kawaguchi et al., 1994). The normal range of CAG repeats is from 12 to 44, whereas in affected individuals it has been found to be in 56-87 repeats range (McLoughlin et al., 2020). Repeats in the range of 45-55 have shown to present incomplete penetrance of disease's symptoms and can be considered as the intermediate range (Ashizawa et al., 2018).

→ View STRipy's population-wide repeat data for ATXN3 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Spinocerebellar ataxia 3 (SCA3) Paediatric/Adult Autosomal dominant 12-44 45-55 ≥56