Annotation Detail
Information
- Associated Genes
- FOXL2
- Associated Variants
-
FOXL2 p.Pro18ArgfsTer77 (p.P18Rfs*77)
(
ENST00000648323.1 )
FOXL2 p.Pro18ArgfsTer77 (p.P18Rfs*77) ( ENST00000648323.1 )
FOXL2 p.Tyr274Ter (p.Y274*) ( ENST00000648323.1 )
FOXL2 p.Gln219Ter (p.Q219*) ( ENST00000648323.1 )
FOXL2 p.Gln99Ter (p.Q99*) ( ENST00000648323.1 )
FOXL2 p.Gln99Lys (p.Q99K) ( ENST00000648323.1 )
FOXL2 p.Ile84Ser (p.I84S) ( ENST00000648323.1 )
FOXL2 p.Glu69Lys (p.E69K) ( ENST00000648323.1 )
FOXL2 p.Gln53Ter (p.Q53*) ( ENST00000648323.1 )
FOXL2 p.Tyr274Ter (p.Y274*) ( ENST00000648323.1 )
FOXL2 p.Gln219Ter (p.Q219*) ( ENST00000648323.1 )
FOXL2 p.Gln99Ter (p.Q99*) ( ENST00000648323.1 )
FOXL2 p.Gln99Lys (p.Q99K) ( ENST00000648323.1 )
FOXL2 p.Ile84Ser (p.I84S) ( ENST00000648323.1 )
FOXL2 p.Glu69Lys (p.E69K) ( ENST00000648323.1 )
FOXL2 p.Gln53Ter (p.Q53*) ( ENST00000648323.1 )
FOXL2 p.Gln321AlafsTer213 (p.Q321Afs*213)
FOXL2 p.Ala308ProfsTer51 (p.A308Pfs*51)
FOXL2 p.His291GlnfsTer71 (p.H291Qfs*71)
FOXL2 p.Gly269AlafsTer265 (p.G269Afs*265)
FOXL2 p.Gln321AlafsTer213 (p.Q321Afs*213)
FOXL2 p.Ala308ProfsTer51 (p.A308Pfs*51)
FOXL2 p.His291GlnfsTer71 (p.H291Qfs*71)
FOXL2 p.Gly269AlafsTer265 (p.G269Afs*265) - Associated Disease
- Blepharophimosis syndrome type 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs