rs121913483, FGFR3

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Malignant neoplasm of urinary bladder
0.820 GeneticVariation BEFREE Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 17384684 2007
Malignant neoplasm of urinary bladder
0.820 GeneticVariation UNIPROT Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 11314002 2001
Malignant neoplasm of urinary bladder
0.820 GeneticVariation UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491 1999
Malignant neoplasm of urinary bladder
0.820 CausalMutation CLINVAR
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 GeneticVariation BEFREE One patient had a pathogenic missense mutation of g.8535C>G (c.746C>G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations. 27450648 2016
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 GeneticVariation UNIPROT Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. 10360402 1999
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 GeneticVariation UNIPROT Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online. 10671061 1998
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 GeneticVariation UNIPROT G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. 9790257 1998
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 GeneticVariation UNIPROT Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). 8845844 1996
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 GeneticVariation UNIPROT Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 8589699 1995
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 GeneticVariation UNIPROT Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 7773297 1995
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 CausalMutation CLINVAR
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 GeneticVariation UNIPROT Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 15772091 2005
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 CausalMutation CLINVAR
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.740 GeneticVariation BEFREE Using single strand conformation polymorphism (SSCP) followed by DNA sequencing, we found FGFR3 mutation (S249C in all cases) in 5% of invasive cervical carcinomas and no mutation in intraepithelial lesions. 15869706 2005
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.740 GeneticVariation BEFREE This study confirms the low frequency of the FGFR3 S249C mutation in CC. 11605053 2001
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.740 GeneticVariation BEFREE Fibroblast growth factor receptor 3 (FGFR3) - analyses of the S249C mutation and protein expression in primary cervical carcinomas. 11904459 2001
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.740 GeneticVariation BEFREE The S249C mutation is the only FGFR3 mutation described to date in cervical carcinomas. 11114733 2000
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.740 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491 1999
Carcinoma of bladder
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
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.720 GeneticVariation CLINVAR Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice. 19381019 2009
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.720 GeneticVariation BEFREE Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 17384684 2007
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