CHEK2 NM_007194.4:c.470T C

Preferred Label : CHEK2 NM_007194.4:c.470T C;

NCIt synonyms : CHEK2 c.470T C; hCds1 c.470T C; NM_007194.4:c.470T C; CDS1 c.470T C; LFS2 c.470T C; RAD53 c.470T C; Checkpoint Kinase 2 c.470T C; CHK2 c.470T C;

NCIt definition : A nucleotide substitution at position 470 of the coding sequence of the CHEK2 gene where thymine has been mutated to cytosine.;

NCI Metathesaurus CUI : CL1407461;

SNP ID : rs17879961;

Details

Origin ID

C173451;

UMLS CUI

C5420209;

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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