FGFR2 NM_000141.4:c.1647T A

Preferred Label : FGFR2 NM_000141.4:c.1647T A;

NCIt synonyms : KGFR c.1647T A; BEK c.1647T A; Fibroblast Growth Factor Receptor 2 c.1647T A; NM_000141.4:c.1647T A; CD332 c.1647T A; ECT1 c.1647T A; K-SAM c.1647T A; FGFR2 c.1647T A;

NCIt definition : A nucleotide substitution at position 1647 of the coding sequence of the FGFR2 gene where thymine has been mutated to adenine.;

SNP ID : rs121913476;

Details

Origin ID

C107598;

UMLS CUI

C3830141;

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
- FGFR2 NP_000132.3:p.N549K [NCIt concept]
- FGFR2 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- FGFR2 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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