Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Lys652Gln (p.K652Q)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000481110.7,
ENST00000412135.7,
ENST00000440486.8 )
FGFR3 p.Lys652Glu (p.K652E) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Lys652Gln (p.K652Q) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Lys652Glu (p.K652E) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Disorder of skeletal system
- Source Database
- DisGeNET
- Description
- The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes constitutive tyrosine kinase activity of the receptor and is associated to the lethal skeletal disorder, thanatophoric dysplasia type II (TDII).
- Pubmed
- 12624096
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2003
Drugs