FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 558; N. variants: 42
Source: ALL
Variant Gene Disease 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
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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 1998
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE The most common G380R FGFR3 achondroplasia mutation was detected. 16475234 2006
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE In an analysis of 19 achondroplasia families from a variety of ethnic backgrounds we confirmed the presence of the G380R mutation in 21 of 23 achondroplasia chromosomes studied. 7702086 1995
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE Here we report the finding of recurrent missense mutations in a CpG doublet of the transmembrane domain of the FGFR3 protein (glycine substituted with arginine at residue 380, G380R) in 17 sporadic cases and 6 unrelated familial forms of achondroplasia. 8078586 1994
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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 2005
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified. 21739570 2011
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
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