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.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 )
Associated Disease
cervix carcinoma
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.241628651232482
Year of publication
NA
Drugs