Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Arg45Gln (p.R45Q), IRF6 p.Arg45Gln (p.R45Q)
(
ENST00000367021.8,
ENST00000542854.5 )
ENSG00000289700 p.Arg45Gln (p.R45Q), IRF6 p.Arg45Gln (p.R45Q) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- Van der Woude syndrome
- Source Database
- ClinVar
- Description
- NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND Van der Woude syndrome
- ClinVar Allele ID
- 18460
- ClinVar RefSeq Alternation Syntax
- NM_001206696.2:c.-112+4667G>A
- ClinVar RefSeq Alternation Syntax
- NM_006147.4:c.134G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003314548
- ClinVar Disease
- Van der Woude syndrome
- Observed Origin Sample
- germline
Drugs