Preferred Label : NOTCH1 NM_017617.4:c.5153T C;
NCIt synonyms : Notch, Drosophila, Homolog of, 1 c.5153T C; NOTCH1 c.5153T C; Notch Homolog 1 c.5153T C; hN1 c.5153T C; TAN1 c.5153T C; NM_017617.4:c.5153T C; Notch 1 c.5153T C;
NCIt definition : A nucleotide substitution at position 5153 of the coding sequence of the NOTCH1 gene
where thymine has been mutated to cytosine.;
NCI Metathesaurus CUI : CL972445;
Origin ID : C167222;
UMLS CUI : C5238375;
Semantic type(s)
molecular_abnormality_involves_gene