Variant: rs121913479 

    present in Gene: FGFR3
    present in Chromosome: 4
    Position on Chromosome: 1804362
    Alleles of this Variant: G/A;T

rs121913479 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.

rs121913479 in FGFR3 gene and Malignant neoplasm of urinary bladder PMID 10471491 1999 Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.

PMID 11314002 2001 Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.

rs121913479 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.

rs121913479 in FGFR3 gene and THANATOPHORIC DYSPLASIA, TYPE I (disorder) PMID 8845844 1996 Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

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

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 In conclusion, we have identified the G370C mutation in the FGFR3 gene in a Japanese TD1 patient.

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