Variant Gene Disease 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 Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family. 28679403

2018

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
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
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
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

2016

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
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
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. 24324705

2014

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET. 23056398

2013

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE The G380R mutation accounts for 98% of the achondroplasia cases, and thus has been studied extensively. 22529939

2012

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. 22339077

2012

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified. 21739570

2011

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
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
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE The G380R mutation in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) causes achondroplasia, the most common form of human dwarfism. 21324899

2011

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 CausalMutation CLINVAR FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. 21324899

2011

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE 2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs. 19789973

2010

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE The G380R mutation in FGFR3 transmembrane domain is known as the genetic cause for achondroplasia, the most common form of human dwarfism. 20624921

2010

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE This mechanism was present in ACH children carrying the G380R mutation but also in a patient in whom no mutation could be detected in the entire coding region of the FGFR3 gene. 19802676

2010

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 CausalMutation CLINVAR Physical basis behind achondroplasia, the most common form of human dwarfism. 20624921

2010

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. 17683901

2008

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
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
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 CausalMutation CLINVAR Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. 18266238

2008

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. 18199430

2008

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

2007

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Furthermore, a G380R mutation in FGFR3 (FGFR3(Ach)), which results in achondroplasia, induces apoptosis in the chondrogenic cell line ATDC5. 17466614

2007

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE The fetal G1138A mutation was detectable in the two achondroplasia-affected pregnancies by the analysis of cf-DNA in maternal plasma using MALDI-TOF MS. 17154237

2007

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
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