NMD_escaping_variant (CURRENT_RELEASE) |
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|---|---|
| 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) | |
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