NOTCH1 NP_060087.3:p.S2467Pfs*7

Preferred Label : NOTCH1 NP_060087.3:p.S2467Pfs*7;

NCIt synonyms : TAN-1 S2467Pfs*7; NOTCH1 p.Ser2467ProfsTer7; NOTCH1 Ser2467ProfsTer7; Translocation-Associated Notch Protein TAN-1 Ser2467ProfsTer7; Neurogenic Locus Notch Homolog Protein 1 Ser2467ProfsTer7; NOTCH1 p.S2467Pfs*7; NOTCH1 S2467Pfs*7; TAN1 Ser2467ProfsTer7; NP_060087.3:p.Ser2467ProfsTer7; Translocation-Associated Notch Protein TAN-1 S2467Pfs*7; Neurogenic Locus Notch Homolog Protein 1 S2467Pfs*7; TAN1 S2467Pfs*7; NOTCH1 NP_060087.3:p.Ser2467ProfsTer7; NP_060087.3:p.S2467Pfs*7; TAN-1 Ser2467ProfsTer7;

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 a proline followed by 6 non-canonical amino acids and stop codon.;

NCI Metathesaurus CUI : CL972237;

Details

Origin ID

C167249;

UMLS CUI

C5239545;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_variant_of_gene_product
- Neurogenic Locus Notch Homolog Protein 1 [NCIt concept]
molecular_abnormality_involves_gene
- NOTCH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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