STRs database » PHOX2B locus
Gene PHOX2B
Location Coding in 4p13
Reference region chr4:41745971-41746031 (hg38)
chr4:41747988-41748048 (hg19)
chr4:41719744-41719804 (hs1)
Repeat unit GCN
Repeat type Imperfect GCN
Distribution of repeats in a superpopulation
→ View repeat distributions in gnomAD database
Overview of repeats

Polyalanine repeat expansions in the exon 3 of the PHOXB2 has been shown to be the main cause of the central hypoventilation syndrome (CCHS) and pathogenic alleles range from 24-33 alanine repeats, whereas normal length of the allele is 20 repeats (Sivan et al., 2019).

→ View STRipy's population-wide repeat data for PHOX2B locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Central hypoventilation syndrome (CCHS) Paediatric Autosomal dominant 20 - ≥24