Annotation Detail
Information
- Associated Genes
- FGFR2
- Associated Variants
-
FGFR2 p.Ser252Leu (p.S252L)
(
ENST00000478859.5,
ENST00000357555.9,
ENST00000358487.10,
ENST00000360144.7,
ENST00000369056.5,
ENST00000369060.8,
ENST00000346997.6,
ENST00000351936.11,
ENST00000356226.8,
ENST00000369059.5,
ENST00000369061.8,
ENST00000457416.7,
ENST00000613048.4,
ENST00000638709.2,
ENST00000682550.1,
ENST00000682772.1,
ENST00000683211.1,
ENST00000684153.1 )
FGFR2 p.Ser252Trp (p.S252W) ( ENST00000478859.5, ENST00000457416.7, ENST00000369056.5, ENST00000369059.5, ENST00000369060.8, ENST00000369061.8, ENST00000684153.1, ENST00000346997.6, ENST00000351936.11, ENST00000356226.8, ENST00000357555.9, ENST00000358487.10, ENST00000360144.7, ENST00000613048.4, ENST00000638709.2, ENST00000682550.1, ENST00000682772.1, ENST00000683211.1 )
FGFR2 p.Ser252Leu (p.S252L) ( ENST00000457416.7, ENST00000478859.5, ENST00000613048.4, ENST00000638709.2, ENST00000682772.1, ENST00000346997.6, ENST00000351936.11, ENST00000356226.8, ENST00000357555.9, ENST00000358487.10, ENST00000360144.7, ENST00000369056.5, ENST00000369059.5, ENST00000369060.8, ENST00000369061.8, ENST00000682550.1, ENST00000683211.1, ENST00000684153.1 )
FGFR2 p.Ser252Trp (p.S252W) ( ENST00000346997.6, ENST00000351936.11, ENST00000356226.8, ENST00000357555.9, ENST00000358487.10, ENST00000360144.7, ENST00000369056.5, ENST00000369059.5, ENST00000369060.8, ENST00000369061.8, ENST00000457416.7, ENST00000478859.5, ENST00000613048.4, ENST00000638709.2, ENST00000682550.1, ENST00000682772.1, ENST00000683211.1, ENST00000684153.1 ) - Associated Disease
- Skull malformation
- Source Database
- DisGeNET
- Description
- A S252W mutation of fibroblast growth factor receptor 2 (FGFR2), which is responsible for nearly two-thirds of Apert syndrome (AS) cases, causes retarded development of the skeleton and skull malformation resulting from premature fusion of the craniofacial sutures.
- Pubmed
- 24489893
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2013
Drugs