OBO ID: SO:0002319
Term Name: NMD_triggering_variant Search Ontology:
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
Relationships
is a type of:
has subtype:
PHENOTYPE No data available

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