NMD_triggering_variant

Term ID

SO:0002319

Synonyms

• NMD triggering variant
• nonsense-mediated decay triggering variant

Definition

A sequence variant that leads to a change in the location of a termination codon in a transcript that leads to nonsense-mediated decay (NMD). The change in location of a termination codon can be caused by several different types of sequence variants, including stop_gained (SO:0001587), frameshift_variant (SO:0001589), splice_donor_variant (SO:0001575), and splice_acceptor_variant (SO:0001574) types of variants.

References

Ontology

Sequence Ontology