Annotation Detail
Information
- Associated Genes
- FOXL2
- Associated Variants
-
FOXL2 p.Gln53Ter (p.Q53*)
(
ENST00000648323.1 )
FOXL2 p.Gln53Ter (p.Q53*) ( ENST00000648323.1 ) - Associated Disease
- BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
- Source Database
- ClinVar
- Description
- NM_023067.4(FOXL2):c.157C>T (p.Gln53Ter) AND BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
- ClinVar Allele ID
- 19899
- ClinVar RefSeq Alternation Syntax
- NM_023067.4:c.157C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005135
- ClinVar Disease
- BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
- Observed Origin Sample
- germline
- Pubmed
- 12400065
- Pubmed
- 16219626
Drugs