Annotation Detail
Information
- Associated Genes
- FOXL2
- Associated Variants
-
FOXL2 p.Pro287AlafsTer241 (p.P287Afs*241)
(
ENST00000648323.1 )
FOXL2 p.Ala230_Ala234del (p.A230_A234del) ( ENST00000648323.1 )
FOXL2 p.Pro287AlafsTer241 (p.P287Afs*241) ( ENST00000648323.1 )
FOXL2 p.Ala230_Ala234del (p.A230_A234del) ( ENST00000648323.1 )
FOXL2 p.Ala230_Ala234dup (p.A230_A234dup) ( ENST00000648323.1 )
FOXL2 p.Ala225_Ala234dup (p.A225_A234dup) ( ENST00000648323.1 )
FOXL2 p.Ala230_Ala234dup (p.A230_A234dup) ( ENST00000648323.1 )
FOXL2 p.Ala225_Ala234dup (p.A225_A234dup) ( ENST00000648323.1 )
FOXL2 p.Tyr274Ter (p.Y274*) ( ENST00000648323.1 )
FOXL2 p.Tyr274Ter (p.Y274*) ( ENST00000648323.1 )
FOXL2 p.Gly269AlafsTer265 (p.G269Afs*265)
FOXL2 p.Ala234_Gly235insSerGlyCysSerSerCysGlyCysSerArg (p.A234_G235insSGCSSCGCSR)
FOXL2 p.Met65delinsSerGlyAlaHisArgLeu (p.M65delinsSGAHRL)
FOXL2 p.Gly269AlafsTer265 (p.G269Afs*265)
FOXL2 p.Ala234_Gly235insSerGlyCysSerSerCysGlyCysSerArg (p.A234_G235insSGCSSCGCSR)
FOXL2 p.Met65delinsSerGlyAlaHisArgLeu (p.M65delinsSGAHRL) - Associated Disease
- Blepharophimosis syndrome type 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs