Preferred Label : NOTCH1 NP_060087.3:p.S2467*;
NCIt synonyms : TAN1 Ser2467Ter; TAN-1 S2467*; NP_060087.3:p.Ser2467Ter; NOTCH1 NP_060087.3:p.Ser2467Ter; NOTCH1 p.S2467*; TAN-1 Ser2467Ter; NOTCH1 S2467*; Translocation-Associated Notch Protein TAN-1 S2467*; Neurogenic Locus Notch Homolog Protein 1 S2467*; NOTCH1 p.Ser2467Ter; TAN1 S2467*; NP_060087.3:p.S2467*; NOTCH1 Ser2467Ter; Translocation-Associated Notch Protein TAN-1 Ser2467Ter; Neurogenic Locus Notch Homolog Protein 1 Ser2467Ter;
NCIt definition : A change in the amino acid composition at position 2467 of the neurogenic locus notch
homolog protein 1 where a nonsense mutation results in the substitution of the serine
with a stop codon.;
NCI Metathesaurus CUI : CL972453;
Origin ID : C167230;
UMLS CUI : C5238382;
Semantic type(s)
gene_product_variant_of_gene_product
molecular_abnormality_involves_gene