rs1395124261

This variant is located in the VSX2 gene.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters5 publications

Isolated microphthalmia 2; Microphthalmia, isolated, with coloboma 3

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About VSX2

This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]

View all VSX2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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