Annotation Detail
Information
- Associated Genes
- FOXL2
- Associated Variants
-
FOXL2 p.Glu69Lys (p.E69K)
(
ENST00000648323.1 )
FOXL2 p.Glu69Lys (p.E69K) ( ENST00000648323.1 ) - Associated Disease
- BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II
- Source Database
- ClinVar
- Description
- NM_023067.4(FOXL2):c.205G>A (p.Glu69Lys) AND BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II
- ClinVar Allele ID
- 39464
- ClinVar RefSeq Alternation Syntax
- NM_023067.4:c.205G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000023464
- ClinVar Disease
- BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II
- Observed Origin Sample
- germline
- Pubmed
- 21325395
- Pubmed
- 18372316
Drugs