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
- Dwarfism
- Source Database
- DisGeNET
- Description
- Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a point mutation (G380R) in the transmembrane region of fibroblast growth factor receptor 3 (FGFR3).
- Pubmed
- 10200283
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00922902365073031
- Year of publication
- 1999
Drugs