Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Tyr375Cys (p.Y375C)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Tyr375Cys (p.Y375C) ( ENST00000412135.7, ENST00000340107.9, ENST00000352904.6, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Thanatophoric dysplasia, type 1
- Source Database
- DisGeNET
- Description
- We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes.
- Pubmed
- 9843049
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 1998
Drugs