Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Arg248Cys (p.R248C)
(
ENST00000481110.7,
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8 )
FGFR3 p.Arg248Cys (p.R248C) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Skeletal dysplasia
- Source Database
- DisGeNET
- Description
- In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-III linker region of the gene encoding the fibroblast growth factor receptor-3 (FGFR3), in an individual who manifests a skeletal dysplasia and epidermal hyperplasia.
- Pubmed
- 12833394
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00705748867408789
- Year of publication
- 2003
Drugs