Annotation Detail
Information
- Associated Genes
- FOXL2
- Associated Variants
-
FOXL2 p.Pro285ArgfsTer71 (p.P285Rfs*71)
(
ENST00000648323.1 )
FOXL2 p.Pro285ArgfsTer71 (p.P285Rfs*71) ( ENST00000648323.1 ) - Associated Disease
- blepharophimosis, ptosis, and epicanthus inversus syndrome
- Source Database
- ClinVar
- Description
- NM_023067.4(FOXL2):c.854del (p.Pro285fs) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome
- ClinVar Allele ID
- 178774
- ClinVar RefSeq Alternation Syntax
- NM_023067.4:c.854del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-11-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000192039
- ClinVar Disease
- Blepharophimosis, ptosis, and epicanthus inversus syndrome
- Observed Origin Sample
- germline
Drugs