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;
Origin ID : C167251;
UMLS CUI : C5238400;
Semantic type(s)
gene_product_variant_of_gene_product
molecular_abnormality_involves_gene