Non-Sense Mediated Decay Mutation

Preferred Label : Non-Sense Mediated Decay Mutation;

NCIt synonyms : NMD Mutation;

NCIt related terms : NONSENSE MEDIATED DECAY; NMD Transcript Variant;

NCIt definition : A mutation occurring in a sequence that regulates non-sense mediated mRNA decay.;

Alternative definition : CDISC: A transcript with a premature stop codon considered likely to be subjected to targeted degradation. (Ensembl);

NCI Metathesaurus CUI : CL551268;

Details

Origin ID

C148643;

UMLS CUI

C4725184;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CDISC SDTM Genomic Symbol Type Response Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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