STRs database » FXN locus
Gene FXN
Location Intron in 9q13
Reference region chr9:69037286-69037304 (hg38)
chr9:71652202-71652220 (hg19)
chr9:81210834-81210861 (hs1)
Repeat unit GAA
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

Friedreich ataxia (FRDA) is caused by GAA repeat expansions in intron 1 of the FXN gene, with pathogenic repeats ranges from 70 repeats to more than 1000 (most often between 600-900) (Pandolfo, 2001). In healthy individuals, the range is found to be 5-30 GAA repeats (Pandolfo, 2001).

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

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Friedreich ataxia (FRDA) Paediatric Autosomal recessive 5-30 - ≥70