rs200808685
This variant is located in the IRF6 gene.
▶ClinVar annotation
Orofacial cleft 6, susceptibility to;Popliteal pterygium syndrome;Van der Woude syndrome; not provided; Thyroid cancer, nonmedullary, 1; Familial cancer of breast; Colorectal cancer; Gastric cancer; Nonpapillary renal cell carcinoma
View on ClinVar →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]
View all IRF6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…