Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Pro250Arg (p.P250R)
(
ENST00000340107.9,
ENST00000412135.7,
ENST00000352904.6,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Pro250Arg (p.P250R) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- craniosynostosis
- Source Database
- DisGeNET
- Description
- A recurrent point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis.
- Pubmed
- 10761652
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0301275047575036
- Year of publication
- 2000
Drugs