Inactivating CHEK2 Gene Mutation

Preferred Label : Inactivating CHEK2 Gene Mutation;

NCIt synonyms : CHEK2 Loss of Function Mutation; CHEK2 Gene Inactivation; Inactivating CHEK2 Mutation; Inactivating hCds1 Gene Mutation; CHEK2 Loss of Function Gene Mutation; Inactivating Checkpoint Kinase 2 Gene Mutation; Inactivating LFS2 Gene Mutation; CHEK2 Inactivating Mutation; Inactivating RAD53 Gene Mutation; Inactivating CDS1 Gene Mutation; CHEK2 Inactivating Gene Mutation; Inactivating CHK2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the CHEK2 gene that either inhibits expression or results in the translation of an inactive serine/threonine-protein kinase Chk2 protein.;

NCI Metathesaurus CUI : CL1661953;

Details

Origin ID

C179344;

UMLS CUI

C5555626;

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]
molecular_abnormality_involves_gene
- CHEK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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