rs2073246

This variant is located in the PAX9 gene.

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ClinVar annotation

Benign★☆☆☆

1 submitter

About PAX9

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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