Germline CHEK2 Gene Mutation

Preferred Label : Germline CHEK2 Gene Mutation;

NCIt synonyms : Germline Checkpoint Kinase 2 Gene Mutation; Germline CHK2 Gene Mutation; Germline RAD53 Gene Mutation; Germline LFS2 Gene Mutation; Germline CHK2 Checkpoint Homolog (S. pombe) Gene Mutation; Germline CDS1 Gene Mutation; Germline hCds1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the CHEK2 gene that originates in the gametes.;

NCI Metathesaurus CUI : CL1922624;

Details

Origin ID

C203401;

UMLS CUI

C5909225;

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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