splice-site variants

Definition of splice-site variant

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.

Source: NCI Dictionary of Cancer Terms