Gene entry
FOXL2
forkhead box L2
- Chromosome
- 3
- Cytoband
- 3q22.3
- Variants (rsID)
- 4
FOXL2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q22.3). Its official name is “forkhead box L2”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs61750361Benignsingle nucleotide variantBlepharophimosis, ptosis, and epicanthus inversus syndrome
- rs104893741Pathogenicsingle nucleotide variantBlepharophimosis, ptosis, and epicanthus inversus syndrome type 1|Blepharophimosis, ptosis, and epicanthus inversus syndrome
- rs121908358Pathogenicsingle nucleotide variantBlepharophimosis, ptosis, and epicanthus inversus 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.
