rs147759267
This variant is located in the RAX gene.
▶ClinVar annotation
About RAX
This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]
View all RAX variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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