" /> NOTCH1 NP_060087.3:p.S2467Rfs*10 - CISMeF





Preferred Label : NOTCH1 NP_060087.3:p.S2467Rfs*10;

NCIt synonyms : NP_060087.3:p.Ser2467ArgfsTer10; NP_060087.3:p.S2467Rfs*10; TAN1 S2467Rfs*10; TAN1 Ser2467ArgfsTer10; Neurogenic Locus Notch Homolog Protein 1 Ser2467ArgfsTer10; Neurogenic Locus Notch Homolog Protein 1 S2467Rfs*10; Translocation-Associated Notch Protein TAN-1 S2467Rfs*10; Translocation-Associated Notch Protein TAN-1 Ser2467ArgfsTer10; NOTCH1 S2467Rfs*10; NOTCH1 Ser2467ArgfsTer10; NOTCH1 p.Ser2467ArgfsTer10; NOTCH1 p.S2467Rfs*10; TAN-1 S2467Rfs*10; TAN-1 Ser2467ArgfsTer10; NOTCH1 NP_060087.3:p.Ser2467ArgfsTer10;

NCIt 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 an arginine followed by 9 non-canonical amino acids and stop codon.;

NCI Metathesaurus CUI : CL972239;

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30/05/2025


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