Preferred Label : Performed Genetic Observation Genetic Region of Interest;
NCIt related terms : PerformedGeneticObservation.geneticRegionOfInterest;
Alternative definition : BRIDG 5.3: The portion of the genome serving as a locus for the test, often a gene.
EXAMPLE(S): EGFR, KRAS, CYP2D6, MYC, MFNG OTHER NAME(S): NOTE(S): These are typically
obtained from the gene symbol list maintained by the Human Genome Variation Society
(HGVS) HUGO Genome Nomenclature Consortium (HGNC), a committee of the Human Genome
Organization (HUGO). This can be a gene, a protein, or a sector as described by geneticRegionTypeCode.;
NCI Metathesaurus CUI : CL978076;
Origin ID : C164926;
UMLS CUI : C5236720;
Anatomic structure is physical part of
- Semantic type(s)
- concept_is_in_subset
