FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Hypochondroplasia (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606808
rs267606808
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder) 		0.010 GeneticVariation BEFREE The p.N540K mutation is associated with 60% of patients with hypochondroplasia and the p.Q485R mutation is a novel mutation located in a highly conserved domain of FGFRs. 19449430 2009