A sequence variant whereby at least one base of a codon is changed, resulting in a premature stop codon, leading to a shortened polypeptide. [ http://www.sequenceontology.org/browser/current_svn/term/SO:ke ]
Synonyms: nonsense codon Jannovar:stop_gained snpEff:STOP_GAINED ANNOVAR:stopgain VAT:prematureStop stop gained VAAST:stop_gained Seattleseq:stop-gained VEP:stop_gained nonsense
Term information
EBI term: Stop gained - In coding sequence, resulting in the gain of a stop codon (i.e. leading to a shortened peptide sequence).