Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Arg623His (p.R623H)
(
ENST00000481110.7,
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8 )
FGFR3 p.Arg623His (p.R623H) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- ARHGEF17 showed a G1865A mutation leading to W622X in a cell line derived from a mucosal melanoma; in RB1 a C1411T base change resulting in Q471X was discovered in a cell line derived from an acral melanoma; and the FGFR3 and DENND2D genes had intronic insertions leading to PTCs in cell lines derived from superficially spreading melanomas.
- Pubmed
- 18677770
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00326723398662778
- Year of publication
- 2008
Drugs