Gene: FGFR2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918498
rs121918498
FGFR2
AA 0.810 GeneticVariation CLINVAR

dbSNP: rs121918498
rs121918498
FGFR2
AA 0.810 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
T 0.710 CausalMutation CLINVAR

dbSNP: rs1057519044
rs1057519044
FGFR2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913478
rs121913478
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1434545235
rs1434545235
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs387907372
rs387907372
FGFR2
AAG 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation BEFREE <b>Conclusion:</b> The baby had Apert syndrome caused by 758 C > G mutation in the exon 7 of FGFR2 gene, considering no this mutation in his parents, it was spontaneous. 29868125

2018
dbSNP: rs79184941
rs79184941
FGFR2
0.800 GeneticVariation BEFREE Apert syndrome is a monogenic human disorder in which cleft palate has been significantly correlated to the fibroblast growth factor receptor (FGFR) 2-Ser252Trp mutation. 12019011

2002
dbSNP: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation BEFREE Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation. 15310757

2004
dbSNP: rs79184941
rs79184941
FGFR2
0.800 GeneticVariation BEFREE Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2). 18242159

2008
dbSNP: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation BEFREE Apert syndrome (AS), the most severe form of craniosynostosis, is caused by missense mutations including Pro253Arg(P253R) of fibroblast growth factor receptor 2 (FGFR2), which leads to enhanced FGF/FGFR2-signaling activity. 30321816

2018
dbSNP: rs79184941
rs79184941
FGFR2
0.800 GeneticVariation BEFREE p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients. 23546041

2013
dbSNP: rs79184941
rs79184941
FGFR2
0.800 GeneticVariation BEFREE A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation. 24489893

2014
dbSNP: rs79184941
rs79184941
FGFR2
0.800 GeneticVariation BEFREE Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. 15975938

2005
dbSNP: rs79184941
rs79184941
FGFR2
C 0.800 CausalMutation CLINVAR Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. 15975938

2005
dbSNP: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation BEFREE All Apert syndrome patients (n = 13) carried one of the two known point mutations in exon 7 of FGFR2 (Ser252Trp and Pro253Arg). 10541159

1999
dbSNP: rs79184941
rs79184941
FGFR2
0.800 GeneticVariation BEFREE Analysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation and 25 had the Pro253Arg mutation. 8651276

1996
dbSNP: rs77543610
rs77543610
FGFR2
0.900 GeneticVariation UNIPROT Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. 7668257

1995
dbSNP: rs121918498
rs121918498
FGFR2
0.810 GeneticVariation UNIPROT Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. 7668257

1995
dbSNP: rs1057519036
rs1057519036
FGFR2
C 0.700 GeneticVariation CLINVAR Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 10394936

1999
dbSNP: rs121918498
rs121918498
FGFR2
0.810 GeneticVariation UNIPROT Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344

1995
dbSNP: rs79184941
rs79184941
FGFR2
0.800 GeneticVariation BEFREE Because the periosteum contribution to AS cranial pathophysiology is unknown, we tested the osteogenic potential of AS periosteal cells (p.Ser252Trp mutation) and observed that these cells are more committed toward the osteoblast lineage. 17622301

2007