NOTCH1 NP_060087.3:p.S2467Wfs*11

Preferred Label : NOTCH1 NP_060087.3:p.S2467Wfs*11;

NCIt synonyms : TAN1 S2467Wfs*11; NOTCH1 NP_060087.3:p.Ser2467TrpfsTer11; Neurogenic Locus Notch Homolog Protein 1 S2467Wfs*11; Translocation-Associated Notch Protein TAN-1 S2467Wfs*11; NP_060087.3:p.Ser2467TrpfsTer11; TAN1 Ser2467TrpfsTer11; NOTCH1 S2467Wfs*11; NOTCH1 p.S2467Wfs*11; Neurogenic Locus Notch Homolog Protein 1 Ser2467TrpfsTer11; Translocation-Associated Notch Protein TAN-1 Ser2467TrpfsTer11; NOTCH1 Ser2467TrpfsTer11; NOTCH1 p.Ser2467TrpfsTer11; TAN-1 S2467Wfs*11; TAN-1 Ser2467TrpfsTer11; NP_060087.3:p.S2467Wfs*11;

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 tryptophan followed by 10 non-canonical amino acids and stop codon.;

NCI Metathesaurus CUI : CL972244;

Details

Origin ID

C167254;

UMLS CUI

C5238403;

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) :

You can consult :

recommendations
documents concerning education
documents for patients