Annotation Detail
Information
- Associated Genes
- FOXL2
- Associated Variants
-
FOXL2 p.Ser217Phe (p.S217F)
(
ENST00000648323.1 )
FOXL2 p.Ser217Phe (p.S217F) ( ENST00000648323.1 ) - Associated Disease
- blepharophimosis, ptosis, and epicanthus inversus syndrome
- Source Database
- ClinVar
- Description
- NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome
- ClinVar Allele ID
- 178776
- ClinVar RefSeq Alternation Syntax
- NM_023067.4:c.650C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000192032
- ClinVar Disease
- Blepharophimosis, ptosis, and epicanthus inversus syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
Drugs