NCI Dictionary of Genetics Terms

The NCI Dictionary of Genetics Terms contains technical definitions for more than 200 terms related to genetics. These definitions were developed by the PDQ® Cancer Genetics Editorial Board to support the evidence-based, peer-reviewed PDQ cancer genetics information summaries.

point mutation
(poynt myoo-TAY-shun)
A genetic alteration caused by the substitution of a single nucleotide for another nucleotide. Also called point variant.