Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Ala2Val (p.A2V), IRF6 p.Ala2Val (p.A2V)
(
ENST00000367021.8,
ENST00000542854.5 )
ENSG00000289700 p.Ala2Val (p.A2V), IRF6 p.Ala2Val (p.A2V) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- Van der Woude syndrome 1
- Source Database
- ClinVar
- Description
- NM_006147.4(IRF6):c.5C>T (p.Ala2Val) AND Van der Woude syndrome 1
- ClinVar Allele ID
- 18455
- ClinVar RefSeq Alternation Syntax
- NM_006147.4:c.5C>T
- ClinVar RefSeq Alternation Syntax
- NM_001206696.2:c.-112+4538C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003585
- ClinVar Disease
- Van der Woude syndrome 1
- Observed Origin Sample
- germline
- Pubmed
- 12920575
- Pubmed
- 12219090
Drugs