Annotation Detail
Information
- Associated Genes
- FOXL2
- Associated Variants
-
FOXL2 p.Pro287AlafsTer241 (p.P287Afs*241)
(
ENST00000648323.1 )
FOXL2 p.Pro285ArgfsTer71 (p.P285Rfs*71) ( ENST00000648323.1 )
FOXL2 p.Pro287AlafsTer241 (p.P287Afs*241) ( ENST00000648323.1 )
FOXL2 p.Pro285ArgfsTer71 (p.P285Rfs*71) ( ENST00000648323.1 )
FOXL2 p.Lys48_Ser58delinsAlaLeu (p.K48_S58delinsAL) ( ENST00000648323.1 )
FOXL2 p.Lys48_Ser58delinsAlaLeu (p.K48_S58delinsAL) ( ENST00000648323.1 )
FOXL2 p.Gln219Ter (p.Q219*) ( ENST00000648323.1 )
FOXL2 p.Ser217Phe (p.S217F) ( ENST00000648323.1 )
FOXL2 p.Gln196Ter (p.Q196*) ( ENST00000648323.1 )
FOXL2 p.Gly187Asp (p.G187D) ( ENST00000648323.1 )
FOXL2 p.Gln219Ter (p.Q219*) ( ENST00000648323.1 )
FOXL2 p.Ser217Phe (p.S217F) ( ENST00000648323.1 )
FOXL2 p.Gln196Ter (p.Q196*) ( ENST00000648323.1 )
FOXL2 p.Gly187Asp (p.G187D) ( ENST00000648323.1 )
FOXL2 p.Thr329SerfsTer211 (p.T329Sfs*211)
FOXL2 p.His291GlnfsTer71 (p.H291Qfs*71)
FOXL2 p.His289GlnfsTer75 (p.H289Qfs*75)
FOXL2 p.Pro288AlafsTer74 (p.P288Afs*74)
FOXL2 p.Pro288AlafsTer74 (p.P288Afs*74)
FOXL2 p.Gly269AlafsTer265 (p.G269Afs*265)
FOXL2 p.Thr329SerfsTer211 (p.T329Sfs*211)
FOXL2 p.His291GlnfsTer71 (p.H291Qfs*71)
FOXL2 p.His289GlnfsTer75 (p.H289Qfs*75)
FOXL2 p.Pro288AlafsTer74 (p.P288Afs*74)
FOXL2 p.Pro288AlafsTer74 (p.P288Afs*74)
FOXL2 p.Gly269AlafsTer265 (p.G269Afs*265) - Associated Disease
- BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.448067311292288
- Year of publication
- NA
Drugs