Preferred Label : NOTCH1 NP_060087.3:p.G1196D;
NCIt synonyms : Neurogenic Locus Notch Homolog Protein 1 G1196D; TAN1 G1196D; NP_060087.3:p.G1196D; NOTCH1 p.Gly1196Asp; NOTCH1 Gly1196Asp; Translocation-Associated Notch Protein TAN-1 Gly1196Asp; Neurogenic Locus Notch Homolog Protein 1 Gly1196Asp; TAN-1 G1196D; TAN1 Gly1196Asp; NP_060087.3:p.Gly1196Asp; NOTCH1 NP_060087.3:p.Gly1196Asp; NOTCH1 p.G1196D; NOTCH1 G1196D; TAN-1 Gly1196Asp; Translocation-Associated Notch Protein TAN-1 G1196D;
NCIt definition : A change in the amino acid residue at position 1196 in the neurogenic locus notch
homolog protein 1 where glycine has been replaced by aspartic acid.;
NCI Metathesaurus CUI : CL972057;
PubMed : 31026031;
Origin ID : C167067;
UMLS CUI : C5238236;
Semantic type(s)
- gene_product_variant_of_gene_product
- molecular_abnormality_involves_gene
