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
- Apert syndrome
- Source Database
- DisGeNET
- Description
- C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, encoding the gain-of-function substitution Ser252Trp, occurs with a birth rate elevated 200- to 800-fold above background and originates exclusively from the unaffected father.
- Pubmed
- 15840724
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.454657861092336
- Year of publication
- 2005
Drugs