Nonsense Mutation

Preferred Label : Nonsense Mutation;

NCIt synonyms : Premature Termination Mutation; Premature Termination Abnormality;

NCIt related terms : Nonsense; Stop Gain; Stop Gained;

NCIt definition : A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein.;

Alternative definition : NCI-GLOSS: A mutation that alters the genetic code in a way that causes the premature termination of a protein. The altered protein may be partially or completely inactivated, resulting in a change or loss of protein function.;

Codes from synonyms : CDR0000671174;

Details

Origin ID

C62198;

UMLS CUI

C0544885;

Automatic exact mappings (from CISMeF team)
- Encephalitis [ORDO Disease]
- Nonsense mutation (finding) [SNOMED CT concept]
- Suppressor Mutation [SNOMED Notion]
- codon, nonsense [MeSH Descriptor]
- encephalitis [MeSH Descriptor]
Currated CISMeF NLP mapping
- mutation, nonsense [MeSH concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Nonsense mutation (finding) [SNOMED CT concept]
- mutation, nonsense [MeSH concept]
abnormality_associated_with_allele
- CYP2C19*3 Allele [NCIt concept]
concept_is_in_subset
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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