Annotation Detail
Information
- Associated Genes
- EFNB1
- Associated Variants
-
EFNB1 p.Trp37Gly (p.W37G)
(
ENST00000204961.5 )
EFNB1 p.Trp37Ter (p.W37*) ( ENST00000204961.5 )
EFNB1 p.Pro54Gln (p.P54Q) ( ENST00000204961.5 )
EFNB1 p.Pro54Leu (p.P54L) ( ENST00000204961.5 )
EFNB1 p.Arg66Ter (p.R66*) ( ENST00000204961.5 )
EFNB1 p.Thr111Ile (p.T111I) ( ENST00000204961.5 )
EFNB1 p.Gly151Ser (p.G151S) ( ENST00000204961.5 )
EFNB1 p.Gly151Val (p.G151V) ( ENST00000204961.5 )
EFNB1 p.Met158Val (p.M158V) ( ENST00000204961.5 )
EFNB1 p.Met158Ile (p.M158I) ( ENST00000204961.5 )
EFNB1 p.Gln166Ter (p.Q166*) ( ENST00000204961.5 )
EFNB1 p.Trp37Gly (p.W37G) ( ENST00000204961.5 )
EFNB1 p.Trp37Ter (p.W37*) ( ENST00000204961.5 )
EFNB1 p.Pro54Gln (p.P54Q) ( ENST00000204961.5 )
EFNB1 p.Pro54Leu (p.P54L) ( ENST00000204961.5 )
EFNB1 p.Arg66Ter (p.R66*) ( ENST00000204961.5 )
EFNB1 p.Thr111Ile (p.T111I) ( ENST00000204961.5 )
EFNB1 p.Gly151Ser (p.G151S) ( ENST00000204961.5 )
EFNB1 p.Gly151Val (p.G151V) ( ENST00000204961.5 )
EFNB1 p.Met158Val (p.M158V) ( ENST00000204961.5 )
EFNB1 p.Met158Ile (p.M158I) ( ENST00000204961.5 )
EFNB1 p.Gln166Ter (p.Q166*) ( ENST00000204961.5 ) - Associated Disease
- Craniofrontonasal dysplasia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.564885953697445
- Year of publication
- NA
Drugs