TERT NM_198253.2:c.1-146C T

Preferred Label : TERT NM_198253.2:c.1-146C T;

NCIt synonyms : 1 295 250 C T; TERT:c.1-146C T; TERT C250T; Telomerase Reverse Transcriptase c.1-146C T; TERT 1 295 250 C T; NM_198253.2:c.1-146C T;

NCIt related terms : C250T;

NCIt definition : A nucleotide substitution in the 5' promoter region of the TERT gene at a position that is 146 nucleotides upstream of the translation start site where cytosine has been mutated to thymine.;

NCI Metathesaurus CUI : CL513361;

Details

Origin ID

C131106;

UMLS CUI

C4321421;

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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