rs1553247592

This variant is located in the IRF6 gene.

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ClinVar annotation

Pathogenic★☆☆☆

1 submitter1 publication

Popliteal pterygium syndrome;Orofacial cleft 6, susceptibility to;Van der Woude syndrome

About IRF6

This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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