TERT NM_198253.2:c.1-124C T

Preferred Label : TERT NM_198253.2:c.1-124C T;

NCIt synonyms : 1 295 228 C T; TERT C228T; TERT:c.1-124C T; Telomerase Reverse Transcriptase c.1-124C T; TERT 1 295 228 C T; NM_198253.2:c.1-124C T;

NCIt related terms : C228T;

NCIt definition : A nucleotide substitution in the 5' promoter region of the TERT gene at a position that is 124 nucleotides upstream of the translation start site where cytosine has been mutated to thymine.;

NCI Metathesaurus CUI : CL513360;

Details

Origin ID

C131107;

UMLS CUI

C4321422;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
molecular_abnormality_involves_gene
- TERT Gene [NCIt concept]
- Telomere Maintenance Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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