Term Name: stop_gained
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]

Relationships
is a type of: feature_truncation nonsynonymous_variant
has subtype: stop_gained_NMD_escaping stop_gained_NMD_triggering