CHEK2 NM_007194.4:c.1283C T

Preferred Label : CHEK2 NM_007194.4:c.1283C T;

NCIt synonyms : CDS1 c.1283C T; NM_007194.4:c.1283C T; hCds1 c.1283C T; CHEK2 c.1283C T; CHK2 c.1283C T; Checkpoint Kinase 2 c.1283C T; RAD53 c.1283C T; LFS2 c.1283C T;

NCIt definition : A nucleotide substitution at position 1283 of the coding sequence of the CHEK2 gene where cytosine has been mutated to thymine.;

NCI Metathesaurus CUI : CL1407455;

SNP ID : rs137853011;

Details

Origin ID

C173453;

UMLS CUI

C5420211;

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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