Variant: rs121913103 

    present in Gene: FGFR3
    present in Chromosome: 4
    Position on Chromosome: 1807262
    Alleles of this Variant: A/C;G;T

rs121913103 in FGFR3 gene and THANATOPHORIC DYSPLASIA, TYPE I (disorder) PMID 17509076 2007 The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor.

PMID 7647778 1995 Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.