Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Glu92Ter (p.E92*), IRF6 p.Glu92Ter (p.E92*)
(
ENST00000367021.8,
ENST00000542854.5 )
ENSG00000289700 p.Glu92Ter (p.E92*), IRF6 p.Glu92Ter (p.E92*) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- popliteal pterygium syndrome Orofacial cleft 6, susceptibility to Van der Woude syndrome
- Source Database
- ClinVar
- Description
- NM_006147.4(IRF6):c.274G>T (p.Glu92Ter) AND multiple conditions
- ClinVar Allele ID
- 18450
- ClinVar RefSeq Alternation Syntax
- NM_001206696.2:c.-12G>T
- ClinVar RefSeq Alternation Syntax
- NM_006147.4:c.274G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003764523
- ClinVar Disease
- Orofacial cleft 6, susceptibility to
- ClinVar Disease
- Van der Woude syndrome
- ClinVar Disease
- Popliteal pterygium syndrome
- Observed Origin Sample
- germline
Drugs