Preferred Label : FGFR3 NM_000142.4:c.1138G C;
NCIt synonyms : CD333 c.1138G C; JTK4 c.1138G C; FGFR3 c.1138G C; NM_000142.4:c.1138G C; Fibroblast Growth Factor Receptor 3 c.1138G C;
NCIt definition : A nucleotide substitution at position 1138 of the coding sequence of the FGFR3 gene
where guanine has been mutated to cytosine.;
NCI Metathesaurus CUI : CL1773479;
SNP ID : rs28931614;
Origin ID : C185147;
UMLS CUI : C5669723;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene