Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Thr548Lys (p.T548K)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Arg623His (p.R623H) ( ENST00000481110.7, ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8 )
FGFR3 p.Thr548Lys (p.T548K) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Arg623His (p.R623H) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- CATSHL syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- NA
Drugs