Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Arg84His (p.R84H), IRF6 p.Arg84His (p.R84H)
(
ENST00000367021.8,
ENST00000542854.5 )
ENSG00000289700 p.Arg84His (p.R84H), IRF6 p.Arg84His (p.R84H) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- Orofacial cleft 6, susceptibility to popliteal pterygium syndrome Van der Woude syndrome
- Source Database
- ClinVar
- Description
- NM_006147.4(IRF6):c.251G>A (p.Arg84His) AND multiple conditions
- ClinVar Allele ID
- 18454
- ClinVar RefSeq Alternation Syntax
- NM_001206696.2:c.-35G>A
- ClinVar RefSeq Alternation Syntax
- NM_006147.4:c.251G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001040643
- ClinVar Disease
- Orofacial cleft 6, susceptibility to
- ClinVar Disease
- Van der Woude syndrome
- ClinVar Disease
- Popliteal pterygium syndrome
- Observed Origin Sample
- germline
Drugs