Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931614
rs28931614
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
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
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
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
0.900 GeneticVariation BEFREE Furthermore, we demonstrate preferential elimination of the dominant-negative FGFR3 c.1138G>A allele in fibroblasts of an individual affected by achondroplasia. 26686765

2016

dbSNP: rs28931614
rs28931614
0.900 GeneticVariation BEFREE Most individuals with ACH have the recurrent mutation (p.Gly380Arg) in the transmembrane (TM) domain of the receptor and individuals with HCH show the common mutation (p.Asn540Lys) in the tyrosine kinase 1 (TK1) region. 31048079

2020

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

1995

dbSNP: rs28931614
rs28931614
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
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
0.900 GeneticVariation BEFREE The high-resolution melting curve analysis successfully genotyped the c.1138G>A mutation in exon 8 of the FGFR3 gene in all 40 patients with achondroplasia without the need of further assays. 18199430

2008

dbSNP: rs28931614
rs28931614
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
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
0.900 GeneticVariation UNIPROT A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. 7758520

1995

dbSNP: rs28931614
rs28931614
0.900 GeneticVariation BEFREE We describe a Klinefelter patient (non-mosaic 47,XXY karyotype) who was heterozygous for the classical 1138G>A mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which is a gain-of-function mutation resulting in achondroplasia. 17554105

2007

dbSNP: rs28931614
rs28931614
0.900 GeneticVariation BEFREE Down syndrome and achondroplasia were confirmed by karyotyping and presence of a common fibroblast growth factor receptor 3 mutation (Gly380Arg), respectively. 18196933

2008

dbSNP: rs28931614
rs28931614
0.900 GeneticVariation BEFREE We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia. 20963478

2011

dbSNP: rs28931614
rs28931614
0.900 GeneticVariation BEFREE Our findings support the fact that p.G380R is a common mutation among diverse population of the world and like other countries, can be used as a molecular diagnosis marker for achondroplasia in Pakistan. 28679403

2017

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

1996

dbSNP: rs28931614
rs28931614
0.900 GeneticVariation BEFREE In this study, we explored the transgenic model expressing mouse Fgfr3 containing the achondroplasia mutation G380R under the Col2 promoter (Ach). 29323153

2018

dbSNP: rs28931614
rs28931614
0.900 GeneticVariation BEFREE The G380R mutation in the transmembrane domain of FGFR3 is a germline mutation responsible for most cases of Achondroplasia, a common form of human dwarfism. 27040652

2016

dbSNP: rs28931614
rs28931614
0.900 GeneticVariation BEFREE Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism. 22529939

2012

dbSNP: rs28931614
rs28931614
0.900 GeneticVariation BEFREE A group of unrelated patients (n=82), characterized by short stature, dysmorphology and X-ray abnormalities, of which mucopolysacharidoses, GM1 gangliosidosis, mucolipidosis type II/III and achondroplasia owing to FGFR3 G380R mutation had been excluded, were recruited in this study. 26377240

2015

dbSNP: rs28931614
rs28931614
0.900 GeneticVariation BEFREE More than 95% of 242 cases reported so far are accounted for by a single Gly380Arg mutation.McKusick et al. proposed that achondroplasia and hypochondroplasia are allelic based on the similarities in phenotype between the two disorders and the identification of a severely dwarfed individual whose father had achondroplasia and whose mother had hypochondroplasia. 7670477

1995

dbSNP: rs28931614
rs28931614
0.900 GeneticVariation UNIPROT Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994