frameshift variant

Pronunciation:(FRAYM-shift VAYR-ee-unt)

Definition: An insertion or deletion involving a number of base pairs that is not a multiple of three, which consequently disrupts the triplet reading frame of a DNA sequence. Such variants (or mutations) usually lead to the creation of a premature termination (stop) codon, and result in a truncated (shorter-than-normal) protein product. Also called frameshift mutation.GeneticsHealth professional

2016-09-28Frameshift Mutation