STRs database » ATN1 locus
Gene ATN1
Location Coding in 12p13.31
Reference region chr12:6936728-6936773 (hg38)
chr12:7045891-7045936 (hg19)
chr12:6947915-6947939 (hs1)
Repeat unit CAG
Repeat type Standard
Distribution of repeats in a superpopulation
→ View repeat distributions in gnomAD database
Overview of repeats

CAG repeat expansions in ATN1 gene are causing the dentatorubral-pallidoluysian atrophy (DRPLA) disease. Two studies have showed that in healthy individuals the repeat size varies from 7-23 repeats (Komure et al., 1995; Nagafuchi et al., 1994). In patients, repeat size has been observed to be between 49-90 (Komure et al., 1995; Nagafuchi et al., 1994; Sugiyama et al., 2020).

→ View STRipy's population-wide repeat data for ATN1 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Dentatorubral-pallidoluysian atrophy (DRPLA) Paediatric/Adult Autosomal dominant 7-23 - ≥49