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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
incomplete terminal codon variant 
internal feature elongation +  
missense variant +  
redundant inserted stop gained 
start lost 
stop gained +  
stop lost 
A sequence variant where at least one base of the terminator codon (stop) is changed, resulting in an elongated transcript.
stop retained variant 

Synonyms
Exact Synonyms: ANNOVAR:stoploss ;   Jannovar:stop_lost ;   Seattleseq:stop-lost ;   VAAST:stop_lost ;   VAT:removedStop ;   VEP:stop_lost ;   snpEff:STOP_LOST ;   stop codon lost ;   stop lost
Related Synonyms: Seattleseq:stop-lost-near-splice
Xrefs: http://snp.gs.washington.edu/SeattleSeqAnnotation137/HelpHowToUse.jsp "Seattleseq" ;   http://snpeff.sourceforge.net/SnpEff_manual.html ;   http://vat.gersteinlab.org/formats.php "VAT" ;   http:www.ensembl.org/info/genome/variation/predicted_data.html#consequences
Definition Sources: SO:ke

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