Gene entry
PAX3
paired box 3
- Chromosome
- 2
- Cytoband
- 2q36.1
- Variants (rsID)
- 24
PAX3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q36.1). Its official name is “paired box 3”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs2234675Conflicting interpretationssingle nucleotide variantCongenital diaphragmatic hernia|Waardenburg syndrome|Craniofacial-deafness-hand syndrome|Waardenburg syndrome type 1
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.