Inactivating CHEK1 Gene Mutation

Preferred Label : Inactivating CHEK1 Gene Mutation;

NCIt synonyms : CHEK1 Gene Inactivation; Inactivating CHEK1 Mutation; CHEK1 Loss of Function Gene Mutation; Inactivating Checkpoint Kinase 1 Gene Mutation; CHEK1 Inactivating Mutation; CHEK1 Inactivating Gene Mutation; Inactivating CHK1 Gene Mutation; CHEK1 Loss of Function Mutation;

NCIt definition : A change in the nucleotide sequence of the CHEK1 gene that either inhibits expression or results in the translation of an inactive serine/threonine-protein kinase Chk1 protein.;

NCI Metathesaurus CUI : CL1661973;

Details

Origin ID

C179343;

UMLS CUI

C5555625;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- CHEK1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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