Annotation Detail

Information
Associated Genes
IRF6
Associated Variants
ENSG00000289700 p.Arg400Gln (p.R400Q), IRF6 p.Arg400Gln (p.R400Q) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg400Gln (p.R400Q), IRF6 p.Arg400Gln (p.R400Q) ( ENST00000367021.8, ENST00000542854.5 )
Associated Disease
Van der Woude syndrome 1
Source Database
ClinVar
Description
NM_006147.4(IRF6):c.1199G>A (p.Arg400Gln) AND Van der Woude syndrome 1
ClinVar Allele ID
107258
ClinVar RefSeq Alternation Syntax
NM_006147.4:c.1199G>A
ClinVar RefSeq Alternation Syntax
NM_001206696.2:c.914G>A
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/RCV000087748
ClinVar Disease
Van der Woude syndrome 1
Observed Origin Sample
germline
Pubmed
20184620
Drugs