Variant: rs121913113 

    present in Gene: FGFR3
    present in Chromosome: 4
    Position on Chromosome: 1806076
    Alleles of this Variant: G/A

rs121913113 in FGFR3 gene and CATSHL syndrome PMID 17033969 2006 A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

rs121913113 in FGFR3 gene and Craniosynostosis PMID 17033969 2006 A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

PMID 27139183 2016 A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.