rs377439671

This variant is located in the PAX2 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Focal segmental glomerulosclerosis 7;Renal coloboma syndrome

About PAX2

PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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