" /> Genetic Variation - CISMeF





Preferred Label : Genetic Variation;

NCIt synonyms : Genetic Diversity; Sequence Variation; Sequence Variant;

NCIt related terms : variant_classification; variant classification; GeneticVariation;

NCIt 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.;

Alternative definition : BRIDG 5.3: 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):;

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Keyword's position in hierarchy(ies) : arborescence

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12/05/2024


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