STRs database » JPH3 locus
Gene JPH3
Location 3′ UTR in 16q24.3
Reference region chr16:87604287-87604329 (hg38)
chr16:87637893-87637935 (hg19)
chr16:93675728-93675776 (hs1)
Repeat unit CTG
Repeat type Standard
Distribution of repeats in a superpopulation
→ View repeat distributions in gnomAD database
Overview of repeats

Expansions of CTG repeats in 3′ UTR of JPH3 gene have shown to cause Huntington's disease-like 2 (HDL2) syndrome and affected individuals have been found to carry alleles with 41-58 repeats, while in normal individuals, it varies from 6 to 27 repeats (Holmes et al., 2001; Margolis & Holmes, 2003).

→ View STRipy's population-wide repeat data for JPH3 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Huntington disease-like 2 (HDL2) Adult Autosomal dominant 6-27 - ≥41