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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
frameshift truncation 
inframe deletion +  
missense variant +  
redundant inserted stop gained 
start lost 
stop gained 
A sequence variant whereby at least one base of a codon is changed, resulting in a premature stop codon, leading to a shortened polypeptide.
stop lost 

Synonyms
Exact Synonyms: ANNOVAR:stopgain ;   Jannovar:stop_gained ;   Seattleseq:stop-gained ;   VAAST:stop_gained ;   VAT:prematureStop ;   VEP:stop_gained ;   nonsense ;   nonsense codon ;   snpEff:STOP_GAINED ;   stop gained
Related Synonyms: Seattleseq:stop-gained-near-splice ;   stop codon gained
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 ;   loinc:LA6699-8 "Nonsense"
Definition Sources: SO:ke

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.