FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Dwarfism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751213196
rs751213196
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0013336
Disease:
Dwarfism 		0.010 GeneticVariation BEFREE A novel p.M528I mutation in FGFR3 was detected in family A, which segregates with short stature and proved to be activating in vitro. 25777271 2015