FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Craniofacial Dysostosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918496
rs121918496
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010273
Disease:
Craniofacial Dysostosis 		0.020 GeneticVariation BEFREE Two types of missense mutations were detected in the FGFR2 gene, Cys342Trp (1205, TGC --> TGG) in a patient with sporadic Crouzon syndrome and Tyr281Cys (1021, TAC --> TGC) in two siblings (brother and sister) with familial Crouzon syndrome, respectively. 12186468 2002
dbSNP: rs121918496
rs121918496
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010273
Disease:
Craniofacial Dysostosis 		0.020 GeneticVariation BEFREE Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R). 8528214 1995