FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Craniosynostosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs981703846
rs981703846
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0010278
Disease:
Craniosynostosis 		0.030 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
dbSNP: rs981703846
rs981703846
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0010278
Disease:
Craniosynostosis 		0.030 GeneticVariation BEFREE A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations. 12357470 2002
dbSNP: rs981703846
rs981703846
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0010278
Disease:
Craniosynostosis 		0.030 GeneticVariation BEFREE A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? 10951518 2000