FGFR3 NP_000133.1:p.S249C

Preferred Label : FGFR3 NP_000133.1:p.S249C;

NCIt synonyms : FGFR3 Ser249Cys; FGFR3 p.Ser249Cys; Fibroblast Growth Factor Receptor 3 Ser249Cys; FGFR3 NP_000133.1:p.Ser249Cys; NP_000133.1:p.S249C; Tyrosine Kinase JTK4 S249C; NP_000133.1:p.Ser249Cys; FGFR-3 S249C; Tyrosine Kinase JTK4 Ser249Cys; FGFR-3 p.S249C; FGFR-3 Ser249Cys; FGFR-3 p.Ser249Cys; CD333 Antigen S249C; FGFR3 S249C; CD333 Antigen Ser249Cys; FGFR3 p.S249C; Fibroblast Growth Factor Receptor 3 S249C;

NCIt definition : A change in the amino acid residue at position 249 in the fibroblast growth factor receptor 3 protein where serine has been replaced by cysteine.;

Details

Origin ID

C128916;

UMLS CUI

C4289328;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_product_sequence_variation_encoded_by_gene_mutant
- FGFR3 Gene Mutation [NCIt concept]
- FGFR3 NM_000142.4:c.746C>G [NCIt concept]
gene_product_variant_of_gene_product
- Fibroblast Growth Factor Receptor 3 [NCIt concept]
molecular_abnormality_involves_gene
- FGFR3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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