{"code":"C17248","name":"Genetic Variation","terminology":"ncit","version":"26.09d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"GeneticVariation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"BRIDG 5.3"},{"name":"variant classification","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"CTDC"},{"name":"variant_classification","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"CTDC"},{"name":"Genetic Variation","termType":"DN","type":"FULL_SYN","typeCode":"P90","source":"CTRP"},{"name":"Genetic Diversity","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Genetic Variation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Sequence Variant","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Sequence Variation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Genetic Variation","type":"Display_Name","typeCode":"P107"},{"name":"Genetic Variation","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"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.","code":"P97","type":"DEFINITION","source":"NCI"},{"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":"P325","type":"ALT_DEFINITION","source":"BRIDG 5.3"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"BRIDG"},{"code":"P322","type":"Contributing_Source","value":"CTDC"},{"code":"P322","type":"Contributing_Source","value":"CTRP"},{"code":"P366","type":"Legacy Concept Name","value":"Genetic_Variation"},{"code":"P106","type":"Semantic_Type","value":"Nucleotide Sequence"},{"code":"P207","type":"UMLS_CUI","value":"C0042333"}]}