Annotation Detail
Information
- Associated Genes
- FOXL2
- Associated Variants
-
FOXL2 p.Lys48_Ser58delinsAlaLeu (p.K48_S58delinsAL)
(
ENST00000648323.1 )
FOXL2 p.Lys48_Ser58delinsAlaLeu (p.K48_S58delinsAL) ( ENST00000648323.1 ) - Associated Disease
- blepharophimosis, ptosis, and epicanthus inversus syndrome
- Source Database
- ClinVar
- Description
- NM_023067.4(FOXL2):c.142_173delinsGCGCT (p.Lys48_Ser58delinsAlaLeu) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome
- ClinVar Allele ID
- 171759
- ClinVar RefSeq Alternation Syntax
- NM_023067.4:c.142_173delinsGCGCT
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-03-17
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000149460
- ClinVar Disease
- Blepharophimosis, ptosis, and epicanthus inversus syndrome
- Observed Origin Sample
- germline
Drugs