Link to this page
National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
Jump to:
| Preferred Name | Genetic Variation | |
| Synonyms |
GeneticVariation Sequence Variant variant classification variant_classification Sequence Variation Genetic Diversity Genetic Variation |
|
| Definitions |
Genetic Variation consists of deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17248 |
|
| ALT_DEFINITION |
The difference(s) in the nucleotide sequence of a biologic entity relative to a reference sequence. EXAMPLE(S): A single nucleotide change from adenosine to cytosine, of the CAG trinucleotides repeats in the Huntington gene. The BRCA1 gene can contain an insertion at position 5382, BRCA1 gene.c.5382insC, or a single nucleotide polymorphism, at position 61 converting a to a G, 61C->G. OTHER NAME(S): NOTE(S):
|
|
| code |
C17248
|
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173072 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C159501 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799 |
|
| Contributing_Source |
BRIDG CTDC CTRP
|
|
| DEFINITION |
Genetic Variation consists of deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents.
|
|
| Display_Name |
Genetic Variation
|
|
| FULL_SYN |
GeneticVariation Sequence Variant variant classification variant_classification Sequence Variation Genetic Diversity Genetic Variation
|
|
| label |
Genetic Variation
|
|
| Legacy Concept Name |
Genetic_Variation
|
|
| Preferred_Name |
Genetic Variation
|
|
| prefixIRI |
Thesaurus:C17248
|
|
| Semantic_Type |
Nucleotide Sequence
|
|
| UMLS_CUI |
C0042333
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping