Gene entry
IRF6
interferon regulatory factor 6
- Chromosome
- 1
- Cytoband
- 1q32.2
- Variants (rsID)
- 6
IRF6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q32.2). Its official name is “interferon regulatory factor 6”. The reference table lists 6 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs1044516Benignsingle nucleotide variantOrofacial cleft 6, susceptibility to|Van der Woude syndrome 1
- rs2013162Benignsingle nucleotide variantOrofacial cleft 6, susceptibility to|Van der Woude syndrome 1|Popliteal pterygium syndrome|Orofacial cleft 6, susceptibility to|Van der Woude syndrome|Autosomal dominant popliteal pterygium syndrome
- rs2235371Benignsingle nucleotide variantOrofacial cleft 6, susceptibility to|Van der Woude syndrome 1|Popliteal pterygium syndrome|Orofacial cleft 6, susceptibility to|Van der Woude syndrome
- rs121434226Pathogenicsingle nucleotide variantPopliteal pterygium syndrome|Autosomal dominant popliteal pterygium syndrome|Van der Woude syndrome|Orofacial cleft 6, susceptibility to|Popliteal pterygium syndrome
- rs769068305Pathogenicsingle nucleotide variantVan der Woude syndrome 1|Popliteal pterygium syndrome|Orofacial cleft 6, susceptibility to|Van der Woude syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.