genetic variant
Hereditary code change
A genetic variant is a difference in DNA sequence compared to a reference genome.
Some variants are harmless, some cause disease, and some confer advantages.
The term is neutral—it describes any deviation without implying pathology: Researchers identified a genetic variant associated with increased longevity.
Variant has largely replaced mutation in clinical contexts because mutation carries negative connotations.
- mutationPermanent DNA alteration
- missense mutationBase swap changing amino acid
- de novoFrom the beginning
- alleleGene variant at one locus
- base pairTwo matched nucleotides bonded
polymorphism · DNA · hereditary · chromosome · sequence · trait · inherited · splice · gain of function · deletion · insertion · dominant · recessive · phenotype · marker · locus · rare · coding