Missense Mutation

Preferred Label : Missense Mutation;

NCIt synonyms : Mutation, Missense; Missense Mutation Abnormality; Exonic Non-Synonymous Mutation; Exon Non-Synonymous Mutation; Non-Synonymous Mutation; Substitution Mutation; Missense Variant;

NCIt related terms : Protein Altering Variant; Substitution;

NCIt definition : A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected.;

Alternative definition : NCI-GLOSS: A single base pair substitution that alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense mutations will alter the function of the protein.;

Codes from synonyms : CDR0000460164;

Details

Origin ID

C18133;

UMLS CUI

C0599155;

Currated CISMeF NLP mapping
- mutation, missense [MeSH Descriptor]
- mutation, missense [MeSH concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
- Genetic Function [UMLS semantic type]
UMLS correspondences (same concept)
- mutation, missense [MeSH concept]
- mutation, missense [MeSH Descriptor]
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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