Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 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: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation. 30335613 2018
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
G 0.800 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2015
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE Homozygous N540K hypochondroplasia--first report: radiological and clinical features. 24715719 2014
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE The present case of hypochondroplasia and FGFR3 mutation in Asn540Lys associated with characteristic abnormalities involving bilaterally medial temporal lobe structures, probable hippocampal cortex focal dysplasia, and early onset of focal epilepsy underscores the possibility of a rare syndrome. 24630288 2014
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE In this retrospective study, we assessed neurological and neuroimaging aspects of 13 FGFR3 (N540K) mutation verified HCH patients in Finland. 23165795 2012
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. 22137367 2012
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. 23149434 2012
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. 21225389 2011
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE The p.N540K mutation is associated with 60% of patients with hypochondroplasia and the p.Q485R mutation is a novel mutation located in a highly conserved domain of FGFRs. 19449430 2009
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE The authors describe a child who has hypochondroplasia due to an N540K mutation and who has medial temporal lobe dysgenesis. 17621485 2007
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE High specificity of head circumference to recognize N540K mutation in hypochondroplasia. 16418051 2006
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE Molecular genetic analysis carried out retrospectively revealed that both fetuses were heterozygous for the C1620A mutation resulting in N540K substitution in FGFR3, the most common mutation in HCH. 16575888 2006
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 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: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE Using genomic DNA sequencing and RFLP analysis, G380R, an ACH-specific mutation, and N540K, an HCH-specific mutation, were detected in 13 patients (50%) and five patients (19%), respectively. 16355813 2005
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE Genetic analysis revealed two germline mutations, a seven base-pair deletion in exon 12 (G70313-703129del) in one allele of the retinoblastoma gene (RB1) and the N540K (C1620C > A) mutation in one allele of the fibroblast growth factor 3 (FGFR3) gene, a frequent mutation in hypochondroplasia. 16020314 2005
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 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: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE Achondroplasia was due to the G380R FGF3R mutation and hypochondroplasia to a N540K mutation in the same gene. 12476453 2003
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in Asn540Lys]) are known to cause hypochondroplasia, a relatively common but milder skeletal dysplasia. 11055896 2000
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE Individuals with hypochondroplasia heterozygous for the Asn540Lys substitution are significantly more disproportionate than individuals without this mutation. 11071087 2000
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 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: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, while the mother has hypochondroplasia due to the C1620G (N450K) mutation in the FGFR3 gene. 10360392 1999
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE Our results support evidence of similar frequency of common type N540K mutation of FGFR3 in Russian hypochondroplasia and of the genetic heterogeneity of hypochondroplasia, suggesting the need for further search for responsible molecular abnormalities for phenotypically similar hypochondroplasia patients negative for TK1 domain mutation in FGFR3, reported in hypochondroplasia. 10395236 1998
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short stature in early childhood. 9672519 1998
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.800 GeneticVariation BEFREE Our patient demonstrated one of the common FGFR3 mutations identified in hypochondroplasia, a C-to-A change at nucleotide 1620 (C1620A) in the tyrosine kinase domain. 9842995 1998