FGFR3 NM_000142.4:c.1948A G

Preferred Label : FGFR3 NM_000142.4:c.1948A G;

NCIt synonyms : JTK4 c.1948A G; FGFR3 c.1948A G; NM_000142.4:c.1948A G; Fibroblast Growth Factor Receptor 3 c.1948A G; CD333 c.1948A G;

NCIt definition : A nucleotide substitution at position 1948 of the coding sequence of the FGFR3 gene where adenine has been mutated to guanine.;

NCI Metathesaurus CUI : CL540123;

SNP ID : rs78311289;

Details

Origin ID

C142087;

UMLS CUI

C4684395;

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.K650E [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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