FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Craniosynostosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761012674
rs761012674
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis 		0.010 GeneticVariation BEFREE Here, we report a novel mutation in exon 8 (IIIc) of FGFR3, p.Ala334Thr, in a young boy with mild craniosynostosis. 22038757 2011