loading...| Preferred Name |
Genetic Variation |
| 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#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C159503 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173072 |
| Contributing_Source |
BRIDG CTRP CTDC |
| 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 variant_classification Genetic Variation Genetic Diversity variant classification Sequence Variation Sequence Variant |
| label |
Genetic Variation |
| Legacy Concept Name |
Genetic_Variation |
| Preferred_Name |
Genetic Variation |
| prefixIRI |
Thesaurus:C17248 |
| prefLabel |
Genetic Variation |
| Semantic_Type |
Nucleotide Sequence |
| UMLS_CUI |
C0042333 |
| subClassOf |