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: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0039743
Disease:
Thanatophoric Dysplasia 		0.010 GeneticVariation BEFREE We report a patient who has the missense FGFR3 mutation, Lys650Met, previously reported in association only with SADDAN, who exhibits some findings similar to both thanatophoric dysplasia (types 1 and 2) in addition to those findings characteristic of SADDAN. 25119967 2015