NOTCH1 NP_060087.3:p.I1718T

Preferred Label : NOTCH1 NP_060087.3:p.I1718T;

NCIt synonyms : TAN1 I1718T; NP_060087.3:p.I1718T; NOTCH1 p.Ile1718Thr; NOTCH1 Ile1718Thr; Translocation-Associated Notch Protein TAN-1 Ile1718Thr; TAN-1 I1718T; Neurogenic Locus Notch Homolog Protein 1 Ile1718Thr; TAN1 Ile1718Thr; NP_060087.3:p.Ile1718Thr; NOTCH1 p.I1718T; NOTCH1 I1718T; NOTCH1 NP_060087.3:p.Ile1718Thr; Translocation-Associated Notch Protein TAN-1 I1718T; Neurogenic Locus Notch Homolog Protein 1 I1718T; TAN-1 Ile1718Thr;

NCIt definition : A change in the amino acid residue at position 1718 in the neurogenic locus notch homolog protein 1 where isoleucine has been replaced by threonine.;

NCI Metathesaurus CUI : CL972448;

PubMed : 31026031;

Details

Origin ID

C167223;

UMLS CUI

C5238376;

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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