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