Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Ala393Glu (p.A393E)
(
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7,
ENST00000340107.9 )
FGFR3 p.Ala393Glu (p.A393E) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000481110.7, ENST00000440486.8 ) - Associated Disease
- Craniofacial dysostosis type 1
- Source Database
- DisGeNET
- Description
- A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
- Pubmed
- 8880573
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 1996
Drugs