Inactivating KMT2C Gene Mutation

Preferred Label : Inactivating KMT2C Gene Mutation;

NCIt synonyms : KMT2C Loss of Function Gene Mutation; KMT2C Inactivating Mutation; Inactivating Lysine Methyltransferase 2C Gene Mutation; Inactivating HALR Gene Mutation; Inactivating MLL3 Gene Mutation; Inactivating Lysine (K)-Specific Methyltransferase 2C Gene Mutation; KMT2C Loss of Function Mutation; KMT2C Gene Inactivation; Inactivating Myeloid/Lymphoid or Mixed-Lineage Leukemia 3 Gene Mutation; Inactivating KMT2C Mutation; KMT2C Inactivation; Loss of Function KMT2C Gene Mutation; Loss of Function KMT2C Mutation; KMT2C Inactivating Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the KMT2C gene that inhibits expression or results in the translation of either low-activity or inactive forms of the histone-lysine N- methyltransferase 2C protein.;

NCI Metathesaurus CUI : CL1412627;

Details

Origin ID

C175328;

UMLS CUI

C5446439;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- KMT2C Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients