FGFR3 NM_000142.4:c.1138G A

Preferred Label : FGFR3 NM_000142.4:c.1138G A;

NCIt synonyms : CD333 c.1138G A; JTK4 c.1138G A; FGFR3 c.1138G A; NM_000142.4:c.1138G A; Fibroblast Growth Factor Receptor 3 c.1138G A;

NCIt definition : A nucleotide substitution at position 1138 of the coding sequence of the FGFR3 gene where guanine has been mutated to adenine.;

NCI Metathesaurus CUI : CL338558;

SNP ID : rs28931614;

Details

Origin ID

C128906;

UMLS CUI

C4289334;

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_mutant_encodes_gene_product_sequence_variation
- FGFR3 NP_000133.1:p.G380R [NCIt concept]
- FGFR3 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- FGFR3 Gene [NCIt concept]
- Fibroblast Growth Factor Receptor Family Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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