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
- thanatophoric dysplasia
- Source Database
- DisGeNET
- Description
- Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
- Pubmed
- 12833394
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.150289326019409
- Year of publication
- 2003
Drugs