chr4:1806119:G>C Detail (hg19) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,806,119-1,806,119
hg38 chr4:1,804,392-1,804,392 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000142.4:c.1138G>C NP_000133.1:p.Gly380Arg
NM_001163213.1:c.1144G>C NP_001156685.1:p.Gly382Arg
NM_022965.3:c.1126G>C NP_075254.1:p.Gly376Arg
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 134934 OMIM
HGNC 3690 HGNC
Ensembl ENSG00000068078 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided intrahepatic bile duct carcinoma not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic other germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-09-01 criteria provided, multiple submitters, no conflicts achondroplasia germline Detail
Pathogenic 2023-12-09 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2019-05-28 criteria provided, single submitter hypochondroplasia germline unknown Detail
Pathogenic 2024-02-02 criteria provided, single submitter FGFR3-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 chondrosarcoma Meclozine also ameliorated abnormally suppressed proliferation of human chondros... BeFree 24324705 Detail
<0.001 chondrosarcoma Meclozine also ameliorated abnormally suppressed proliferation of human chondros... BeFree 24324705 Detail
0.002 chondrosarcoma Meclozine also ameliorated abnormally suppressed proliferation of human chondros... BeFree 24324705 Detail
0.621 achondroplasia NA CLINVAR Detail
0.362 NEVUS, EPIDERMAL (disorder) NA CLINVAR Detail
0.621 achondroplasia Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the... BeFree 9780920 Detail
0.010 ACROCEPHALOPOLYSYNDACTYLY TYPE IV Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the... BeFree 9780920 Detail
0.332 Pfeiffer syndrome Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the... BeFree 9780920 Detail
0.009 Dwarfism Achondroplasia, the most common form of dwarfism in man, is a dominant genetic d... BeFree 10200283 Detail
0.621 achondroplasia A recurrent glycine to arginine mutation at codon 380 (G380R) in the transmembra... BeFree 10979354 Detail
0.621 achondroplasia We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) metho... BeFree 20963478 Detail
0.007 Skeletal dysplasia Achondroplasia is a skeletal dysplasia caused by substitution of arginine for gl... BeFree 11472579 Detail
0.269 multiple myeloma Although not at the G1138A site, there are increased rates of other somatic muta... BeFree 19551630 Detail
0.621 achondroplasia The mother has achondroplasia and carries the common G1138 (G380R) mutation in t... BeFree 10360393 Detail
0.009 Dwarfism The G380R mutation in FGFR3 transmembrane domain is known as the genetic cause f... BeFree 20624921 Detail
0.621 achondroplasia Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gen... BeFree 12921294 Detail
0.621 achondroplasia Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondropla... BeFree 18199430 Detail
0.621 achondroplasia FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: ph... BeFree 10881785 Detail
0.621 achondroplasia The father has achondroplasia due to the common G1138A (G380R) mutation in the f... BeFree 10360392 Detail
0.621 achondroplasia We propose that the achondroplasia mutation G380R uncouples ligand-mediated rece... UNIPROT 10611230 Detail
0.621 achondroplasia A glycine to arginine mutation at codon 380 (G380R) of the fibroblast growth fac... BeFree 11556601 Detail
0.495 Hypochondroplasia (disorder) The father has achondroplasia due to the common G1138A (G380R) mutation in the f... BeFree 10360392 Detail
0.621 achondroplasia Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients wit... BeFree 22339077 Detail
0.495 Hypochondroplasia (disorder) To determine whether the genotype could be distinguished on the basis of the phe... BeFree 9853502 Detail
0.621 achondroplasia Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. BeFree 9001669 Detail
0.621 achondroplasia Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead'... BeFree 12297284 Detail
0.009 Dwarfism The Gly380Arg mutation in FGFR3 is the genetic cause for achondroplasia (ACH), t... BeFree 23056398 Detail
0.621 achondroplasia Furthermore, a G380R mutation in FGFR3 (FGFR3(Ach)), which results in achondropl... BeFree 17466614 Detail
0.621 achondroplasia The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G... BeFree 21739570 Detail
0.621 achondroplasia Our results support the argument that the G380R mutation of FGFR-3 is the most f... BeFree 8682509 Detail
0.621 achondroplasia The most common G380R FGFR3 achondroplasia mutation was detected. BeFree 16475234 Detail
0.362 NEVUS, EPIDERMAL (disorder) The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouple... UNIPROT 10611230 Detail
0.621 achondroplasia Down syndrome and achondroplasia were confirmed by karyotyping and presence of a... BeFree 18196933 Detail
0.621 achondroplasia The most common achondroplasia mutation, a p.Gly380Arg in the fibroblast growth ... BeFree 23949953 Detail
0.621 achondroplasia A mouse model for achondroplasia was generated by introducing the human mutation... BeFree 11518810 Detail
0.621 achondroplasia The Gly380Arg mutation in FGFR3 is the genetic cause for achondroplasia (ACH), t... BeFree 23056398 Detail
0.150 thanatophoric dysplasia The mapping of the achondroplasia locus to the short arm of chromosome 4 and the... BeFree 9055906 Detail
0.009 Dwarfism The G380R mutation in the transmembrane domain of fibroblast growth factor recep... BeFree 21324899 Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) The mapping of the achondroplasia locus to the short arm of chromosome 4 and the... BeFree 9055906 Detail
<0.001 Down syndrome FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: ph... BeFree 10881785 Detail
0.150 thanatophoric dysplasia Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead'... BeFree 12297284 Detail
0.621 achondroplasia Achondroplasia is defined by recurrent G380R mutations of FGFR3. BeFree 7847369 Detail
0.495 Hypochondroplasia (disorder) This assay, which is performed on the LightCycler thermocycler, enables the rapi... BeFree 15345118 Detail
0.457 THANATOPHORIC DYSPLASIA, TYPE I (disorder) Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead'... BeFree 12297284 Detail
0.621 achondroplasia An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutat... BeFree 17683901 Detail
0.621 achondroplasia To determine whether the genotype could be distinguished on the basis of the phe... BeFree 9853502 Detail
0.621 achondroplasia Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth fact... BeFree 16434832 Detail
0.621 achondroplasia Achondroplasia is a skeletal dysplasia caused by substitution of arginine for gl... BeFree 11472579 Detail
0.621 achondroplasia In the present study, 70 of 75 Japanese patients with achondroplasia were found ... BeFree 10102070 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) AND Achondroplasia ClinVar Detail
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) AND Hypochondroplasia ClinVar Detail
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) AND FGFR3-related disorder ClinVar Detail
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... DisGeNET Detail
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... DisGeNET Detail
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the patient with Pfeiff... DisGeNET Detail
Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the patient with Pfeiff... DisGeNET Detail
Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the patient with Pfeiff... DisGeNET Detail
Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a ... DisGeNET Detail
A recurrent glycine to arginine mutation at codon 380 (G380R) in the transmembrane domain of the fib... DisGeNET Detail
We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detec... DisGeNET Detail
Achondroplasia is a skeletal dysplasia caused by substitution of arginine for glycine at codon 380 (... DisGeNET Detail
Although not at the G1138A site, there are increased rates of other somatic mutations in the FGFR3 g... DisGeNET Detail
The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the f... DisGeNET Detail
The G380R mutation in FGFR3 transmembrane domain is known as the genetic cause for achondroplasia, t... DisGeNET Detail
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. DisGeNET Detail
Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resol... DisGeNET Detail
FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype cor... DisGeNET Detail
The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth fac... DisGeNET Detail
We propose that the achondroplasia mutation G380R uncouples ligand-mediated receptor activation from... DisGeNET Detail
A glycine to arginine mutation at codon 380 (G380R) of the fibroblast growth factor receptor 3 gene ... DisGeNET Detail
The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth fac... DisGeNET Detail
Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia usi... DisGeNET Detail
To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed ... DisGeNET Detail
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. DisGeNET Detail
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblas... DisGeNET Detail
The Gly380Arg mutation in FGFR3 is the genetic cause for achondroplasia (ACH), the most common form ... DisGeNET Detail
Furthermore, a G380R mutation in FGFR3 (FGFR3(Ach)), which results in achondroplasia, induces apopto... DisGeNET Detail
The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G&gt;A) was identifie... DisGeNET Detail
Our results support the argument that the G380R mutation of FGFR-3 is the most frequent mutation cau... DisGeNET Detail
The most common G380R FGFR3 achondroplasia mutation was detected. DisGeNET Detail
The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated re... DisGeNET Detail
Down syndrome and achondroplasia were confirmed by karyotyping and presence of a common fibroblast g... DisGeNET Detail
The most common achondroplasia mutation, a p.Gly380Arg in the fibroblast growth factor receptor 3 (F... DisGeNET Detail
A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-argini... DisGeNET Detail
The Gly380Arg mutation in FGFR3 is the genetic cause for achondroplasia (ACH), the most common form ... DisGeNET Detail
The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identifi... DisGeNET Detail
The G380R mutation in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) causes... DisGeNET Detail
The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identifi... DisGeNET Detail
FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype cor... DisGeNET Detail
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblas... DisGeNET Detail
Achondroplasia is defined by recurrent G380R mutations of FGFR3. DisGeNET Detail
This assay, which is performed on the LightCycler thermocycler, enables the rapid and reliable detec... DisGeNET Detail
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblas... DisGeNET Detail
An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for ... DisGeNET Detail
To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed ... DisGeNET Detail
Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene r... DisGeNET Detail
Achondroplasia is a skeletal dysplasia caused by substitution of arginine for glycine at codon 380 (... DisGeNET Detail
In the present study, 70 of 75 Japanese patients with achondroplasia were found to have a G1138A mut... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs28931614 dbSNP
Genome
hg19
Position
chr4:1,806,119-1,806,119
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser