Term Name: | NMD_triggering_variant |
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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. |
Ontology: | Sequence Ontology [SO:0002319] |