Annotation Detail

Information
Associated Genes
FGFR3
Associated Variants
FGFR3 p.Ser249Cys (p.S249C) ( ENST00000412135.7, ENST00000340107.9, ENST00000440486.8, ENST00000352904.6, ENST00000481110.7 )
FGFR3 p.Ser249Phe (p.S249F) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Gly372Cys (p.G372C) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Ser249Cys (p.S249C) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Ser249Phe (p.S249F) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Gly372Cys (p.G372C) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
Associated Disease
Malignant neoplasm of urinary bladder
Source Database
DisGeNET
Description
Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer.
Pubmed
21264819
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.274755829279595
Year of publication
2011
Drugs