Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Arg84Cys (p.R84C), IRF6 p.Arg84Cys (p.R84C)
(
ENST00000542854.5,
ENST00000367021.8 )
ENSG00000289700 p.Arg84Cys (p.R84C), IRF6 p.Arg84Cys (p.R84C) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- Autosomal dominant popliteal pterygium syndrome
- Source Database
- ClinVar
- Description
- NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) AND Autosomal dominant popliteal pterygium syndrome
- ClinVar Allele ID
- 18453
- ClinVar RefSeq Alternation Syntax
- NM_001206696.2:c.-36C>T
- ClinVar RefSeq Alternation Syntax
- NM_006147.4:c.250C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-05-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001775062
- ClinVar Disease
- Autosomal dominant popliteal pterygium syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
Drugs