rs116674530

This variant is located in the GRHL3 gene.

ClinVar annotation

Likely Benign☆☆☆
2 submitters1 publication

GRHL3-related disorder; Van der Woude syndrome 2

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About GRHL3

This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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