rs2473719330
This variant is located in the SOX2 gene.
▶ClinVar annotation
Anophthalmia/microphthalmia-esophageal atresia syndrome
View on ClinVar →About SOX2
This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]
View all SOX2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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