Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Gly382Arg (p.G382R)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Gly382Arg (p.G382R) ( ENST00000440486.8, ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000481110.7 )
FGFR3 p.Gly382Arg (p.G382R) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Gly382Arg (p.G382R) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- achondroplasia
- Source Database
- DisGeNET
- Description
- A recurrent glycine to arginine mutation at codon 380 (G380R) in the transmembrane domain of the fibroblast growth factor receptor 3 gene was found to cause achondroplasia among different populations.
- Pubmed
- 10979354
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.621035659391194
- Year of publication
- 2000
Drugs