Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE The Gly380 --> Arg mutation in the TM domain of fibroblast growth factor receptor 3 (FGFR3) of the RTK family is linked to achondroplasia, the most common form of human dwarfism. 16634636

2006

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Although 98% of ACH cases are accounted for by a single G380R substitution in the TM, a common mutation (N540K) in the TK1 region is detected in only 60-65% of HCH cases. 16912704

2006

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE The most common G380R FGFR3 achondroplasia mutation was detected. 16475234

2006

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Karyotype was normal and FGFR3 G380R mutation characteristic of ACH was excluded in both fetuses. 16575888

2006

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE The vast majority of patients with achondroplasia have a G-to-A transition at position 1138 of the fibroblast growth factor receptor 3 (FGFR3) cDNA sequence, resulting in the Gly-to-Arg substitution at position 380 of the FGFR3 protein. 16434832

2006

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE No remarkable clinical or radiological differences were evident among the ACH infants and children with G380R, the HCH patients with N540K, and the patients without verified mutations. 16355813

2005

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE This assay, which is performed on the LightCycler thermocycler, enables the rapid and reliable detection of the two most common FGFR3 mutations associated with ACH (1138G --> A and 1138G --> C; G380R) and HYCH (1620C --> A and 1620 C --> G; N540K) in a single test. 15345118

2004

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE An exclusive paternal origin of mutations, and increased paternal age, were previously described for a different mutation (c.1138G>A) of the FGFR3 gene causing achondroplasia, as well as for mutations of the related FGFR2 gene causing Apert, Crouzon and Pfeiffer syndromes. 15241680

2004

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Achondroplasia was due to the G380R FGF3R mutation and hypochondroplasia to a N540K mutation in the same gene. 12476453

2003

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia. 12297284

2002

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation UNIPROT FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation. 12297284

2002

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a "knock-in" approach using gene targeting leading to a constitutively active receptor. 11518810

2001

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE We examined the G380R mutation (G > A and G > C transition) and the mutation G375C (G > T transition at codon 375) in 31 sporadic patients and in one family diagnosed clinically to have achondroplasia. 10979354

2000

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Since the Gly380Arg achondroplasia mutation was recognized, similar observations regarding the conserved nature of FGFR mutations and resulting phenotype have been made regarding other skeletal phenotypes, including hypochondroplasia, thanatophoric dysplasia, and Muenke coronal craniosynostosis. 10696568

2000

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation UNIPROT The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation. 10611230

2000

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex. 10360392

1999

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene. 10360393

1999

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE More than 97% of achondroplasia cases are caused by one of two mutations (G1138A and G1138C) in the fibroblast growth factor receptor 3 (FGFR3) gene, which results in a specific amino acid substitution, G380R. 9718331

1998

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE The vast majority of patients with achondroplasia have a G-->A substitution at position 1138 of the fibroblast growth factor receptor (FGFR3) cDNA sequence, resulting in the substitution of an arginine for a glycine residue at position 380 of the FGFR3 protein. 9401015

1997

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Our results support the argument that the G380R mutation of FGFR-3 is the most frequent mutation causing achondroplasia across different populations. 8682509

1996

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. 9001669

1996

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (Gly380Arg) in the gene encoding fibroblast growth factor receptor 3 (FGFR-3) has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: thanatophoric dysplasia (TD; types I and II) and hypochondroplasia. 9055906

1996

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE We report here recurrent missense mutations, in a CpG doublet of the transmembrane domain of the FGFR3 protein (G380R) in 17 sporadic cases and 6 unrelated familial forms of ACH and show that the mutant genotype segregates with the disease in these families. 8742128

1996

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation UNIPROT Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. 8599935

1996

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation UNIPROT Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369

1995