STRs database » RUNX2 locus
Gene RUNX2
Location Coding in 6p21.1
Reference region chr6:45422750-45422801 (hg38)
chr6:45390487-45390538 (hg19)
Repeat unit GCN
Repeat type Imperfect GCN
Distribution of repeats in a superpopulation
Overview of repeats

Polyalanine expansions in the exon 3 of the RUNX2 gene (also known as CBFA1) have been associated with the cleidocranial dysplasia (CCD). In one study conducted by Mundlos et al. (1997) discovered a family where six members carried an expanded allele. The repeat size in these patients was 27, whereas the normal length is 17 alanine repeats (Mundlos et al., 1997).

→ View STRipy's population-wide repeat data for RUNX2 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Cleidocranial dysplasia (CCD) Paediatric Autosomal dominant 17 - ≥27