FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Thanatophoric Dysplasia ×
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: C0039743
Disease:
Thanatophoric Dysplasia 		0.010 GeneticVariation BEFREE Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, located on the same allele, (c.[1620C>A;1454A>G]), which corresponds to p.[N540K;Q485R]. 19449430 2009