rs1663313490

This variant is located in the PROX1 gene.

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ClinVar annotation

Likely Benign

1 submitter

PROX1-related disorder

About PROX1

The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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