Gene entry
SOX2
SRY-box transcription factor 2
- Chromosome
- 3
- Cytoband
- 3q26.33
- Variants (rsID)
- 4
SOX2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q26.33). Its official name is “SRY-box transcription factor 2”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs121918652Pathogenicsingle nucleotide variantOptic nerve hypoplasia and abnormalities of the central nervous system
- rs55683010Pathogenicsingle nucleotide variantAnophthalmia/microphthalmia-esophageal atresia syndrome
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.