NMD_escaping_variant    (CURRENT_SVN)

SO Accession: SO:0002320 (SOWiki)
Definition: A sequence variant that leads to a change in the location of a termination codon in a transcript but allows the transcript to escape 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 escaping variant, nonsense-mediated decay escaping variant
DB Xrefs: GenCC: AR

Parent: functionally_abnormal (SO:0002218)

Children: stop_gained_NMD_escaping (SO:0002322)
splice_acceptor_variant_NMD_escaping (SO:0002328)
splice_donor_variant_NMD_escaping (SO:0002326)
frameshift_variant_NMD_escaping (SO:0002324)
In the image below graph nodes link to the appropriate terms. Clicking the image background will toggle the image between large and small formats.
Graph image for SO:0002320