Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Gln49Ter (p.Q49*), IRF6 p.Gln49Ter (p.Q49*)
(
ENST00000367021.8,
ENST00000542854.5 )
ENSG00000289700 p.Gln49Ter (p.Q49*), IRF6 p.Gln49Ter (p.Q49*) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- popliteal pterygium syndrome Van der Woude syndrome Orofacial cleft 6, susceptibility to
- Source Database
- ClinVar
- Description
- NM_006147.4(IRF6):c.145C>T (p.Gln49Ter) AND multiple conditions
- ClinVar Allele ID
- 48590
- ClinVar RefSeq Alternation Syntax
- NM_006147.4:c.145C>T
- ClinVar RefSeq Alternation Syntax
- NM_001206696.2:c.-112+4678C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-09-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001037238
- ClinVar Disease
- Orofacial cleft 6, susceptibility to
- ClinVar Disease
- Van der Woude syndrome
- ClinVar Disease
- Popliteal pterygium syndrome
- Observed Origin Sample
- germline
Drugs