NMD_triggering_variant    (CURRENT_RELEASE)

SO Accession: SO:0002319 (SOWiki)
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.
Synonyms: NMD triggering variant, nonsense-mediated decay triggering variant
DB Xrefs: GenCC: AR

Parent: functionally_abnormal (SO:0002218)

Children: stop_gained_NMD_triggering (SO:0002321)
splice_acceptor_variant_NMD_triggering (SO:0002327)
splice_donor_variant_NMD_triggering (SO:0002325)
frameshift_variant_NMD_triggering (SO:0002323)
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