Annotation Detail
Information
- Associated Genes
- FOXL2
- Associated Variants
-
FOXL2 p.Gln196Ter (p.Q196*)
(
ENST00000648323.1 )
FOXL2 p.Gln196Ter (p.Q196*) ( ENST00000648323.1 ) - Associated Disease
- blepharophimosis, ptosis, and epicanthus inversus syndrome
- Source Database
- ClinVar
- Description
- NM_023067.4(FOXL2):c.586C>T (p.Gln196Ter) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome
- ClinVar Allele ID
- 19904
- ClinVar RefSeq Alternation Syntax
- NM_023067.4:c.586C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005141
- ClinVar Disease
- Blepharophimosis, ptosis, and epicanthus inversus syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Pubmed
- 12938087
Drugs