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SEQUENCE ONTOLOGY - ANNOTATIONS

The Sequence Types and Features Ontology (SO) is downloaded weekly from the SourceForge CVS repository at http://song.cvs.sourceforge.net/viewvc/song/ontology/. For more information about this ontology, see the Sequence Ontology Home Page at http://www.sequenceontology.org/.

Term:NMD_triggering_variant
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Accession:SO:0002319 term browser browse the term
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.
Comment:Added as per request from Ang Roberts as part of GenCC November 2020.
Synonyms:exact_synonym: NMD triggering variant;   nonsense-mediated decay triggering variant


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  SO ontology 0
    sequence_variant 0
      functional_effect_variant 0
        functionally_abnormal 0
          NMD_triggering_variant 0
            frameshift_variant_NMD_triggering 0
            splice_acceptor_variant_NMD_triggering 0
            splice_donor_variant_NMD_triggering 0
            stop_gained_NMD_triggering 0
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