Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Ser424Leu (p.S424L), IRF6 p.Ser424Leu (p.S424L)
(
ENST00000542854.5,
ENST00000367021.8 )
ENSG00000289700 p.Ser424Leu (p.S424L), IRF6 p.Ser424Leu (p.S424L) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- popliteal pterygium syndrome
- Source Database
- ClinVar
- Description
- NM_006147.4(IRF6):c.1271C>T (p.Ser424Leu) AND Popliteal pterygium syndrome
- ClinVar Allele ID
- 39611
- ClinVar RefSeq Alternation Syntax
- NM_001206696.2:c.986C>T
- ClinVar RefSeq Alternation Syntax
- NM_006147.4:c.1271C>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/RCV000023631
- ClinVar Disease
- Popliteal pterygium syndrome
- Observed Origin Sample
- germline
- Pubmed
- 20803643
Drugs