NOTCH1 NP_060087.3:p.S2467Pfs*7

**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 proline followed by 6 non-canonical amino acids and stop codon.

**Synonyms:** - NOTCH1 NP_060087.3:p.Ser2467ProfsTer7 - NOTCH1 S2467Pfs*7 - NOTCH1 Ser2467ProfsTer7 - NOTCH1 p.S2467Pfs*7 - NOTCH1 p.Ser2467ProfsTer7 - NP_060087.3:p.S2467Pfs*7 - NP_060087.3:p.Ser2467ProfsTer7 - Neurogenic Locus Notch Homolog Protein 1 S2467Pfs*7 - Neurogenic Locus Notch Homolog Protein 1 Ser2467ProfsTer7 - TAN-1 S2467Pfs*7 - TAN-1 Ser2467ProfsTer7 - TAN1 S2467Pfs*7 - TAN1 Ser2467ProfsTer7 - Translocation-Associated Notch Protein TAN-1 S2467Pfs*7 - Translocation-Associated Notch Protein TAN-1 Ser2467ProfsTer7