Preferred Label : NOTCH1 NP_060087.3:p.S2467Rfs*13;
NCIt synonyms : NP_060087.3:p.Ser2467ArgfsTer13; NP_060087.3:p.S2467Rfs*13; TAN1 Ser2467ArgfsTer13; TAN1 S2467Rfs*13; Neurogenic Locus Notch Homolog Protein 1 S2467Rfs*13; Neurogenic Locus Notch Homolog Protein 1 Ser2467ArgfsTer13; Translocation-Associated Notch Protein TAN-1 S2467Rfs*13; Translocation-Associated Notch Protein TAN-1 Ser2467ArgfsTer13; NOTCH1 Ser2467ArgfsTer13; NOTCH1 S2467Rfs*13; NOTCH1 p.Ser2467ArgfsTer13; NOTCH1 p.S2467Rfs*13; TAN-1 Ser2467ArgfsTer13; TAN-1 S2467Rfs*13; NOTCH1 NP_060087.3:p.Ser2467ArgfsTer13;
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 12 non-canonical amino acids and stop codon.;
NCI Metathesaurus CUI : CL972464;
Origin ID : C167242;
UMLS CUI : C5238393;
- Semantic type(s)
- gene_product_variant_of_gene_product
- molecular_abnormality_involves_gene