" /> BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.L248V - CISMeF





Preferred Label : BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.L248V;

NCIt synonyms : BCR-ABL L248V Mutation; BCR/ABL L248V Mutation; BCR/ABL Fusion Protein with Leu248Val; BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.Leu248Val; BCR-ABL Leu248Val Mutation; BCR/ABL1 Fusion Protein with NP_005148.2:p.Leu248Val; BCR/ABL Leu248Val Mutation; BCR/ABL Fusion Protein with L248V; BCR/ABL1 Fusion Protein with NP_005148.2:p.L248V; BCR/ABL1 L248V Mutation; BCR-ABL1 L248V Mutation; BCR/ABL1 Leu248Val Mutation; BCR-ABL1 Leu248Val Mutation; BCR::ABL1 Fusion Protein with ABL1 NP_005148.2:p.L248V;

NCIt related terms : L248V;

NCIt definition : A fusion protein encoded by the BCR/ABL1 fusion gene with ABL1 NM_005157.4:c.742C G mutation. This protein is comprised of the N-terminus of the breakpoint cluster region protein fused to almost the entire tyrosine-protein kinase ABL1 protein where the leucine at position 248 of the ABL1 protein has been replaced by valine.;

NCIt note : The position of the amino acid substitution is denoted by its location in the tyrosine-protein kinase ABL1 protein sequence (NCBI Reference Sequence: NP_005148.2) and not its location in the fusion protein.;

NCI Metathesaurus CUI : CL513788;

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02/05/2024


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