Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Lys652Thr (p.K652T)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Lys652Met (p.K652M) ( ENST00000481110.7, ENST00000412135.7, ENST00000440486.8, ENST00000340107.9, ENST00000352904.6 )
FGFR3 p.Lys652Thr (p.K652T) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Lys652Met (p.K652M) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Developmental delay (disorder)
- Source Database
- DisGeNET
- Description
- We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) [Tavormina et al., 1999: Am.
- Pubmed
- 10377013
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 1999
Drugs