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NCI Dictionary of Genetics Terms

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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.

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splice-site variant
(... VAYR-ee-unt)
A genetic alteration in the DNA sequence that occurs at the boundary of an exon and an intron (splice site). This change can disrupt RNA splicing resulting in the loss of exons or the inclusion of introns and an altered protein-coding sequence. Also called splice-site mutation.