rs530106628

This variant is located in the EYA3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About EYA3

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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