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Gene entry

VSX2

visual system homeobox 2

Chromosome
14
Cytoband
14q24.3
Variants (rsID)
6

VSX2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q24.3). Its official name is “visual system homeobox 2”. The reference table lists 6 variants (rsID) for this gene.

Clinically classified variants

2 reference-table entries with clinical significance.

  • rs8020424Benignsingle nucleotide variantMicrophthalmia, isolated, with coloboma 3|Isolated microphthalmia 2
  • rs121912543Pathogenicsingle nucleotide variantMicrophthalmia, cataracts, and iris abnormalities|Isolated microphthalmia 2

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.