Gene entry
HESX1
HESX homeobox 1
- Chromosome
- 3
- Cytoband
- 3p14.3
- Variants (rsID)
- 5
HESX1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p14.3). Its official name is “HESX homeobox 1”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs143057250Conflicting interpretationssingle nucleotide variantSepto-optic dysplasia sequence|Pituitary hormone deficiency, combined, 1|Septo-optic dysplasia sequence|Growth hormone deficiency with pituitary anomalies|Amenorrhea
- rs104893742Pathogenicsingle nucleotide variantGrowth hormone deficiency with pituitary anomalies
- rs28936702Pathogenicsingle nucleotide variantSepto-optic dysplasia sequence
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.