STRs database » ATXN7 locus
Gene ATXN7
Location Coding in 3p14.1
Reference region chr3:63912685-63912715 (hg38)
chr3:63898361-63898391 (hg19)
Repeat unit CAG
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

In a healthy population, CAG repeats in the ATXN7 gene ranges from 4-35, whereas expansions of 37 or more repeats cause spinocerebellar ataxia type 7 (Stevanin et al., 1998). Repeats between 28 and 35 increases risk of pathogenic alleles during meiosis which would result in SCA7 in offspring (Gousse et al., 2018), but repeats in this range are extremely rare (Stevanin et al., 1998). However, a study conducted on Mexican population discovered SCA7 patients who had alleles comprised as less as 34 repeats (MagaƱa et al., 2014).

→ View STRipy's population-wide repeat data for ATXN7 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Spinocerebellar ataxia 7 (SCA7) Adult Autosomal dominant 4-35 28-35 ≥36