Preferred Label : NOTCH1 NP_060087.3:p.S2467Afs*15;
NCIt synonyms : Translocation-Associated Notch Protein TAN-1 S2467Afs*15; NOTCH1 NP_060087.3:p.Ser2467AlafsTer15; NOTCH1 S2467Afs*15; NOTCH1 p.S2467Afs*15; NP_060087.3:p.Ser2467AlafsTer15; TAN1 Ser2467AlafsTer15; Neurogenic Locus Notch Homolog Protein 1 Ser2467AlafsTer15; TAN-1 S2467Afs*15; Translocation-Associated Notch Protein TAN-1 Ser2467AlafsTer15; NOTCH1 Ser2467AlafsTer15; NOTCH1 p.Ser2467AlafsTer15; NP_060087.3:p.S2467Afs*15; TAN1 S2467Afs*15; TAN-1 Ser2467AlafsTer15; Neurogenic Locus Notch Homolog Protein 1 S2467Afs*15;
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 alanine followed by 14 non-canonical amino acids and stop codon.;
NCI Metathesaurus CUI : CL972466;
Origin ID : C167244;
UMLS CUI : C5238395;
Semantic type(s)
gene_product_variant_of_gene_product
molecular_abnormality_involves_gene