FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Source: ALL
Variant Gene Disease Risk Allele 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 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 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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.780 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: C0001080
Disease:
Achondroplasia
0.750 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: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease:
Muenke Syndrome
0.900 GeneticVariation BEFREE Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3. 31111620 2019
dbSNP: rs28931615
rs28931615
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C2677099
Disease:
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.870 GeneticVariation BEFREE The p.Ala391Glu change has been predominantly identified in patients with Crouzon syndrome with acanthosis nigricans. 31016899 2019
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.820 GeneticVariation BEFREE PATIENT SUMMARY: We propose that APOBEC-mediated mutagenesis can generate clinically relevant driver mutations even within suboptimal motifs, such as in the case of FGFR3 S249C, one of the most common mutations in bladder cancer. 30975452 2019
dbSNP: rs121913101
rs121913101
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.720 GeneticVariation BEFREE Clinical features and molecular genetic analysis of thanatophoric dysplasia type I in a neonate with a de novo c.2419 T > C (p. Ter807Arg) (X807R) mutation in FGFR3. 31476288 2019
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0699885
Disease:
Carcinoma of bladder
0.720 GeneticVariation BEFREE PATIENT SUMMARY: We propose that APOBEC-mediated mutagenesis can generate clinically relevant driver mutations even within suboptimal motifs, such as in the case of FGFR3 S249C, one of the most common mutations in bladder cancer. 30975452 2019
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.710 GeneticVariation BEFREE PIK3CA showed a uniquely high rate of mutations within the helicase domain, and FGFR3 contained a predominance of hotspot S249C alterations that were not found in HPV- HNSCC. 30933315 2019
dbSNP: rs3135890
rs3135890
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0027651
Disease:
Neoplasms
0.080 GeneticVariation BEFREE We also found that the FGFR3 S249C mutation was common in three other cancer types with an APOBEC mutational signature, but rare in urothelial tumors without APOBEC mutagenesis and in two diseases probably related to aging. 30975452 2019
dbSNP: rs28931615
rs28931615
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0000889
Disease:
Acanthosis Nigricans
0.040 GeneticVariation BEFREE Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 31016899 2019
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005695
Disease:
Bladder Neoplasm
0.020 GeneticVariation BEFREE PATIENT SUMMARY: We propose that APOBEC-mediated mutagenesis can generate clinically relevant driver mutations even within suboptimal motifs, such as in the case of FGFR3 S249C, one of the most common mutations in bladder cancer. 30975452 2019
dbSNP: rs28931615
rs28931615
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010273
Disease:
Craniofacial Dysostosis
0.020 GeneticVariation BEFREE Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 31016899 2019
dbSNP: rs28931615
rs28931615
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
0.020 GeneticVariation BEFREE Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 31016899 2019
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE We also found that the FGFR3 S249C mutation was common in three other cancer types with an APOBEC mutational signature, but rare in urothelial tumors without APOBEC mutagenesis and in two diseases probably related to aging. 30975452 2019
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE We also found that the FGFR3 S249C mutation was common in three other cancer types with an APOBEC mutational signature, but rare in urothelial tumors without APOBEC mutagenesis and in two diseases probably related to aging. 30975452 2019
dbSNP: rs1292564852
rs1292564852
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0000846
Disease:
Agenesis
0.010 GeneticVariation BEFREE Novel Wnt10A mutations (c.521T>C and c.653T>G) and EVC2 mutation (c.1472C>T) were identified in families with selective tooth agenesis. 30417976 2019
dbSNP: rs1457537911
rs1457537911
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0679407
Disease:
Gastrointestinal dysfunction
0.010 GeneticVariation BEFREE We have previously reported that knock-in mice expressing the CFC syndrome-associated mutation, Braf Q241R, showed growth retardation because of gastrointestinal dysfunction. 30239744 2019
dbSNP: rs1457537911
rs1457537911
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome
0.010 GeneticVariation BEFREE We have previously reported that knock-in mice expressing the CFC syndrome-associated mutation, Braf Q241R, showed growth retardation because of gastrointestinal dysfunction. 30239744 2019
dbSNP: rs28931615
rs28931615
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0220658
Disease:
Pfeiffer Syndrome
0.010 GeneticVariation BEFREE This finding illustrates the first reported case of a child with an overlap with Pfeiffer syndrome to have the p.Ala391Glu variant. 31016899 2019
dbSNP: rs56240927
rs56240927
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0013575
Disease:
Ectodermal Dysplasia
0.010 GeneticVariation BEFREE One novel mutation (c.441_442insACTCT) and three reported mutations (c.252delT, c.463C>T, and c.1013C>T) in EDA were identified in families with ectodermal dysplasia. 30417976 2019
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE The classic phenotype of ACH is caused by two highly prevalent mutations, c.1138G > A and c.1138G > C (p.Gly380Arg). 30160829 2018