Single Nucleotide Variant

Preferred Label : Single Nucleotide Variant;

NCIt synonyms : SNV;

NCIt related terms : Single Nucleotide Variants; snv_variant; snv variant; Single-Nucleotide Variant; SNV, NOS;

NCIt definition : A variation of a single nucleotide at a specific location of the genome due to base substitution, which is found at any frequency in the population.;

NCI Metathesaurus CUI : CL977820;

Details

Origin ID

C164674;

UMLS CUI

C5236477;

False automatic mappings
- autonomic nervous system [MeSH Descriptor]
Semantic type(s)
- Nucleotide Sequence [UMLS semantic type]
concept_is_in_subset
- ALL Authorized Value Terminology [NCIt concept]
- ALL Molecular Analysis Table [NCIt concept]
- AML Authorized Value Terminology [NCIt concept]
- AML Molecular Analysis Table [NCIt concept]
- CTDC Node Terminology [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
- GCT Authorized Value Terminology [NCIt concept]
- GCT Molecular Analysis Table [NCIt concept]
- pFDA Bioinformatics/Genomics Terminology [NCIt concept]
- precisionFDA Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients