stop_gained

Term ID

SO:0001587

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.

References

• http://ensembl.org/info/genome/variation/prediction/predicted_data.html
• http://snp.gs.washington.edu/SeattleSeqAnnotation137/HelpHowToUse.jsp
• http://snpeff.sourceforge.net/SnpEff_manual.html
• http://vat.gersteinlab.org/formats.php
• loinc:LA6699-8

Ontology

Sequence Ontology