Annotation Detail

Information
Associated Genes
IRF6
Associated Variants
ENSG00000289700 p.Arg400Trp (p.R400W), IRF6 p.Arg400Trp (p.R400W) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg400Trp (p.R400W), IRF6 p.Arg400Trp (p.R400W) ( ENST00000367021.8, ENST00000542854.5 )
Associated Disease
Van der Woude syndrome 1
Source Database
ClinVar
Description
NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp) AND Van der Woude syndrome 1
ClinVar Allele ID
18458
ClinVar RefSeq Alternation Syntax
NM_006147.4:c.1198C>T
ClinVar RefSeq Alternation Syntax
NM_001206696.2:c.913C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2010-09-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000003588
ClinVar Disease
Van der Woude syndrome 1
Observed Origin Sample
germline
Pubmed
12920575
Pubmed
20184620
Drugs