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C167222Level 6

NOTCH1 NM_017617.4:c.5153T>C

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A nucleotide substitution at position 5153 of the coding sequence of the NOTCH1 gene where thymine has been mutated to cytosine.

**Synonyms:** - NM_017617.4:c.5153T>C - NOTCH1 c.5153T>C - Notch 1 c.5153T>C - Notch Homolog 1 c.5153T>C - Notch, Drosophila, Homolog of, 1 c.5153T>C - TAN1 c.5153T>C - hN1 c.5153T>C

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