Term Name: | stop_gained |
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Synonyms: | ANNOVAR:stopgain, Jannovar:stop_gained, nonsense, nonsense codon, Seattleseq:stop-gained, Seattleseq:stop-gained-near-splice, snpEff:STOP_GAINED, stop codon gained, stop gained, VAAST:stop_gained, VAT:prematureStop, VEP:stop_gained |
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. |
Ontology: | Sequence Ontology [SO:0001587] |