Variant: rs121913482 

    present in Gene: FGFR3
    present in Chromosome: 4
    Position on Chromosome: 1801837
    Alleles of this Variant: C/T

rs121913482 in FGFR3 gene and Adenocarcinoma of lung (disorder) PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs121913482 in FGFR3 gene and Carcinoma PMID 10471491 1999 Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.

rs121913482 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.

rs121913482 in FGFR3 gene and Multiple Myeloma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913482 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.

rs121913482 in FGFR3 gene and Squamous cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913482 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.

rs121913482 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 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 7773297 1995 Of 39 individuals with a second type of TD, 22 had a mutation causing an Arg248Cys change and one had a Ser371Cys substitution, both in the extracellular region of the protein.

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

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

rs121913482 in FGFR3 gene and Transitional cell carcinoma of bladder PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.