stop_gained (CURRENT_RELEASE) |
|
|---|---|
| SO Accession: | SO:0001587 (SOWiki) |
| Definition: | A sequence variant whereby at least one base of a codon is changed, resulting in a premature stop codon, leading to a shortened polypeptide. |
| Synonyms: | Seattleseq:stop-gained-near-splice, stop codon gained, ANNOVAR:stopgain, Jannovar:stop_gained, nonsense, nonsense codon, Seattleseq:stop-gained, snpEff:STOP_GAINED, stop gained, VAAST:stop_gained, VAT:prematureStop, VEP:stop_gained |
| DB Xrefs: | SO: ke |
| Parents: | nonsynonymous_variant (SO:0001992) |
| feature_truncation (SO:0001906) | |
| Children: | stop_gained_NMD_escaping (SO:0002322) |
| stop_gained_NMD_triggering (SO:0002321) | |
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