Variant: rs121913483 

    present in Gene: FGFR3
    present in Chromosome: 4
    Position on Chromosome: 1801841
    Alleles of this Variant: C/A;G;T

rs121913483 in FGFR3 gene and Carcinoma PMID 10471491 1999 Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.

rs121913483 in FGFR3 gene and Carcinoma of bladder PMID 19381019 2009 Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs121913483 in FGFR3 gene and Craniosynostosis PMID 11879084 2002 Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria.

PMID 25606676 2015 Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.

PMID 17384684 2007 Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer.

PMID 19749790 2009 Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner.

PMID 8589699 1995 Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

PMID 11038465 2000 Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.

rs121913483 in FGFR3 gene and Malignant neoplasm of urinary bladder PMID 11314002 2001 Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.

PMID 10471491 1999 Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.

rs121913483 in FGFR3 gene and Papillary renal cell carcinoma, sporadic PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913483 in FGFR3 gene and Seborrheic keratosis PMID 15772091 2005 Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.

rs121913483 in FGFR3 gene and Squamous cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913483 in FGFR3 gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913483 in FGFR3 gene and THANATOPHORIC DYSPLASIA, TYPE I (disorder) PMID 8589699 1995 Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

PMID 8845844 1996 Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

PMID 10671061 1998 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.

PMID 9790257 1998 G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.

PMID 7773297 1995 Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

PMID 10360402 1999 Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.

rs121913483 in FGFR3 gene and Transitional cell carcinoma of bladder PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.