STRs database » ZIC3 locus
Gene ZIC3
Location Coding in Xq26.3
Reference region chrX:137566826-137566856 (hg38)
chrX:136648985-136649015 (hg19)
chrX:135876774-135876804 (hs1)
Repeat unit GCC
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

Only one patient has been discovered who had two repeat expansion in the exon 1 of the ZIC3 gene which was responsible for developing X-linked VACTERL syndrome. The patient with the mutation died an hour after birth. It was later determined that the repeat length expanded from 10 to 12 repeats of alanine coded by GCC repeat. None of the 336 controls nor the mother had an expansion in the locus (Wessels et al., 2010).

→ View STRipy's population-wide repeat data for ZIC3 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
X-linked VACTERL syndrome (VACTERLX) Paediatric X-linked recessive 10 - ≥12