STRs database » TBX1 locus
Gene TBX1
Location Coding in 22q11.21
Reference region chr22:19766762-19766807 (hg38)
chr22:19754285-19754330 (hg19)
chr22:20143615-20143660 (hs1)
Repeat unit GCN
Repeat type Imperfect GCN
Distribution of repeats in a superpopulation
→ View repeat distributions in gnomAD database
Overview of repeats

When Rauch et al. (2010) were analysing patients with tetralogy of fallot (TOF) heart disease, they discovered one individual with repeat expansion in the TBX gene. The allele was expanded from 15 to 25 repeats of alanine and none of the 185 controls nor patient's mother had the expansion (Rauch et al., 2010).

→ View STRipy's population-wide repeat data for TBX1 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Tetralogy of Fallot (TOF) Paediatric Autosomal dominant 15 - ≥25