Variant: rs121913116 

    present in Gene: FGFR3
    present in Chromosome: 4
    Position on Chromosome: 1799395
    Alleles of this Variant: C/T

rs121913116 in FGFR3 gene and Achondroplasia PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

rs121913116 in FGFR3 gene and Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

rs121913116 in FGFR3 gene and CATSHL syndrome PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

rs121913116 in FGFR3 gene and CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

rs121913116 in FGFR3 gene and Hypochondroplasia (disorder) PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

rs121913116 in FGFR3 gene and Lacrimoauriculodentodigital syndrome PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

rs121913116 in FGFR3 gene and Muenke Syndrome PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

rs121913116 in FGFR3 gene and THANATOPHORIC DYSPLASIA, TYPE I (disorder) PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

rs121913116 in FGFR3 gene and Thanatophoric dysplasia, type 2 PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.