point mutation

Preferred Label : point mutation;

MeSH definition : A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.;

MeSH synonym : mutation, point; mutations, point; point mutations;

MeSH annotation : see MUTATION for correct use of /drug eff & /rad eff;

Wikipedia link : https://en.wikipedia.org/wiki/Point mutation;

Details

Origin ID

D017354;

UMLS CUI

C0162735;

Allowable qualifiers
- drug effects [MeSH Qualifier]
- ethics [MeSH Qualifier]
- genetics [MeSH Qualifier]
- immunology [MeSH Qualifier]
- physiology [MeSH Qualifier]
- radiation effects [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Mutation Abnormality [NCIt concept]
- Mutation ID [EDAM data]
- Point mutation (finding) [SNOMED CT concept]
- mutation [IUPAC Term]
Currated CISMeF NLP mapping
- Point Mutation [NCIt concept]
Indexing information
- factor V leiden [MeSH Supplementary Concept]
Record concept(s)
- point mutation [MeSH concept]
See also
- mutation, missense [MeSH Descriptor]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Point Mutation [NCIt concept]
- Point mutation (finding) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

Main resources

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