Annotation Detail

Information
Associated Genes
IRF6
Associated Variants
ENSG00000289700 p.Glu92Ter (p.E92*), IRF6 p.Glu92Ter (p.E92*) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Glu92Ter (p.E92*), IRF6 p.Glu92Ter (p.E92*) ( ENST00000367021.8, ENST00000542854.5 )
Associated Disease
popliteal pterygium syndrome Orofacial cleft 6, susceptibility to Van der Woude syndrome
Source Database
ClinVar
Description
NM_006147.4(IRF6):c.274G>T (p.Glu92Ter) AND multiple conditions
ClinVar Allele ID
18450
ClinVar RefSeq Alternation Syntax
NM_001206696.2:c.-12G>T
ClinVar RefSeq Alternation Syntax
NM_006147.4:c.274G>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2024-01-21
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003764523
ClinVar Disease
Orofacial cleft 6, susceptibility to
ClinVar Disease
Van der Woude syndrome
ClinVar Disease
Popliteal pterygium syndrome
Observed Origin Sample
germline
Drugs