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

**Semantic type:** Cell or Molecular Dysfunction

**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.

**Synonyms:** - 1 295 228 C>T - C228T - NM_198253.2:c.1-124C>T - TERT 1 295 228 C>T - TERT C228T - TERT:c.1-124C>T - Telomerase Reverse Transcriptase c.1-124C>T