FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 60; N. variants: 39
Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia 		C 0.900 CausalMutation CLINVAR
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia 		A 0.900 CausalMutation CLINVAR
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease:
Muenke Syndrome 		G 0.900 CausalMutation CLINVAR
dbSNP: rs78311289
rs78311289
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1300257
Disease:
Thanatophoric dysplasia, type 2 		G 0.890 CausalMutation CLINVAR
dbSNP: rs28931615
rs28931615
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C2677099
Disease:
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		A 0.870 CausalMutation CLINVAR The A391E mutation enhances FGFR3 activation in the absence of ligand. 21536014 2011
dbSNP: rs28931615
rs28931615
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C2677099
Disease:
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		A 0.870 CausalMutation CLINVAR Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN. 20199409 2010
dbSNP: rs28931615
rs28931615
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C2677099
Disease:
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		A 0.870 CausalMutation CLINVAR Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 18976668 2008
dbSNP: rs28931615
rs28931615
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C2677099
Disease:
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		A 0.870 CausalMutation CLINVAR Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation. 9857065 1998
dbSNP: rs28931615
rs28931615
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C2677099
Disease:
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		A 0.870 CausalMutation CLINVAR Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034 1995
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C2674173
Disease:
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		C 0.850 CausalMutation CLINVAR
dbSNP: rs75790268
rs75790268
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia 		T 0.850 CausalMutation CLINVAR
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		T 0.840 CausalMutation CLINVAR
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		C 0.840 CausalMutation CLINVAR
dbSNP: rs121913482
rs121913482
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0334082
Disease:
NEVUS, EPIDERMAL (disorder) 		T 0.840 CausalMutation CLINVAR
dbSNP: rs121913482
rs121913482
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		T 0.830 CausalMutation CLINVAR
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder 		G 0.820 CausalMutation CLINVAR
dbSNP: rs121913485
rs121913485
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		G 0.820 CausalMutation CLINVAR
dbSNP: rs121913479
rs121913479
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		G 0.810 CausalMutation CLINVAR
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease:
Craniosynostosis 		G 0.800 CausalMutation CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388 2016
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder) 		G 0.800 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2015
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease:
Craniosynostosis 		G 0.800 CausalMutation CLINVAR FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. 15915095 2005
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease:
Craniosynostosis 		G 0.800 CausalMutation CLINVAR Identical proline-->arginine gain-of-function mutations in fibroblast growth factor receptor (FGFR) 1 (Pro252Arg), FGFR2 (Pro253Arg) and FGFR3 (Pro250Arg), result in type I Pfeiffer, Apert and Muenke craniosynostosis syndromes, respectively. 14613973 2004
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease:
Craniosynostosis 		G 0.800 CausalMutation CLINVAR Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678 2000
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease:
Craniosynostosis 		G 0.800 CausalMutation CLINVAR Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. 10094188 1999