NOTCH1 NP_060087.3:p.Q2503*

Preferred Label : NOTCH1 NP_060087.3:p.Q2503*;

NCIt synonyms : TAN-1 Gln2503Ter; TAN-1 Q2503*; NOTCH1 p.Gln2503Ter; NOTCH1 p.Q2503*; NOTCH1 Gln2503Ter; NOTCH1 Q2503*; Translocation-Associated Notch Protein TAN-1 Gln2503Ter; Translocation-Associated Notch Protein TAN-1 Q2503*; Neurogenic Locus Notch Homolog Protein 1 Gln2503Ter; Neurogenic Locus Notch Homolog Protein 1 Q2503*; TAN1 Gln2503Ter; TAN1 Q2503*; NP_060087.3:p.Gln2503Ter; NP_060087.3:p.Q2503*; NOTCH1 NP_060087.3:p.Gln2503Ter;

NCIt definition : A change in the amino acid composition of the neurogenic locus notch homolog protein 1 where a nonsense mutation results in the substitution of the glutamine at position 2503 with a stop codon.;

NCI Metathesaurus CUI : CL972449;

PubMed : 31026031;

Details

Origin ID

C167226;

UMLS CUI

C5238378;

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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