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.Ala393Glu (p.A393E) ( ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7, ENST00000340107.9 )
FGFR3 p.Pro250Arg (p.P250R) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Ala393Glu (p.A393E) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000481110.7, ENST00000440486.8 ) - Associated Disease
- Muenke Syndrome
- Source Database
- DisGeNET
- Description
- The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis.
- Pubmed
- 22038757
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.564343069953285
- Year of publication
- 2011
Drugs