PIK3CA NM_006218.1:c.1258T C

Preferred Label : PIK3CA NM_006218.1:c.1258T C;

NCIt synonyms : PIK3CA c.1258T C; Phosphoinositide-3-Kinase, Catalytic, Alpha Polypeptide c.1258T C; PI3K c.1258T C; p110-alpha c.1258T C; NM_006218.1:c.1258T C;

NCIt definition : A nucleotide substitution at position 1258 of the coding sequence of the PIK3CA gene where thymine has been mutated to cytosine.;

SNP ID : rs121913272;

Details

Origin ID

C98490;

UMLS CUI

C3274181;

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
- PIK3CA NP_006209.2:p.C420R [NCIt concept]
- PIK3CA Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- PIK3CA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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