Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Leu22Pro (p.L22P), IRF6 p.Leu22Pro (p.L22P)
(
ENST00000367021.8,
ENST00000542854.5 )
ENSG00000289700 p.Leu22Pro (p.L22P), IRF6 p.Leu22Pro (p.L22P) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- popliteal pterygium syndrome
- Source Database
- ClinVar
- Description
- NM_006147.4(IRF6):c.65T>C (p.Leu22Pro) AND Popliteal pterygium syndrome
- ClinVar Allele ID
- 39609
- ClinVar RefSeq Alternation Syntax
- NM_006147.4:c.65T>C
- ClinVar RefSeq Alternation Syntax
- NM_001206696.2:c.-112+4598T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000023629
- ClinVar Disease
- Popliteal pterygium syndrome
- Observed Origin Sample
- germline
- Pubmed
- 14757865
Drugs