NOTCH1 NP_060087.3:p.S2467 Frameshift

Preferred Label : NOTCH1 NP_060087.3:p.S2467 Frameshift;

NCIt synonyms : TAN-1 Ser2467fs; NP_060087.3:p.S2467fs; TAN1 S2467fs; NP_060087.3:p.Ser2467fs; Neurogenic Locus Notch Homolog Protein 1 S2467fs; Translocation-Associated Notch Protein TAN-1 S2467fs; TAN1 Ser2467fs; NOTCH1 S2467fs; Translocation-Associated Notch Protein TAN-1 Ser2467fs; NOTCH1 p.Ser2467fs; NOTCH1 p.S2467fs; Neurogenic Locus Notch Homolog Protein 1 Ser2467fs; NOTCH1 NP_060087.3:p.Ser2467fs; TAN-1 S2467fs; NOTCH1 Ser2467fs; NOTCH1 NP_060087.3:p.S2467fs;

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 several non-canonical amino acids followed by a stop codon.;

NCI Metathesaurus CUI : CL972459;

PubMed : 31026031;

Details

Origin ID

C167235;

UMLS CUI

C5238386;

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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