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C167254Level 6

NOTCH1 NP_060087.3:p.S2467Wfs*11

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the amino acid composition at position 2467 of the neurogenic locus notch homolog protein 1 where a frameshift mutation results in the substitution of the serine with a tryptophan followed by 10 non-canonical amino acids and stop codon.

**Synonyms:** - NOTCH1 NP_060087.3:p.Ser2467TrpfsTer11 - NOTCH1 S2467Wfs*11 - NOTCH1 Ser2467TrpfsTer11 - NOTCH1 p.S2467Wfs*11 - NOTCH1 p.Ser2467TrpfsTer11 - NP_060087.3:p.S2467Wfs*11 - NP_060087.3:p.Ser2467TrpfsTer11 - Neurogenic Locus Notch Homolog Protein 1 S2467Wfs*11 - Neurogenic Locus Notch Homolog Protein 1 Ser2467TrpfsTer11 - TAN-1 S2467Wfs*11 - TAN-1 Ser2467TrpfsTer11 - TAN1 S2467Wfs*11 - TAN1 Ser2467TrpfsTer11 - Translocation-Associated Notch Protein TAN-1 S2467Wfs*11 - Translocation-Associated Notch Protein TAN-1 Ser2467TrpfsTer11

GET/api/v1/systems/nci_thesaurus/nodes/C167254
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