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Ontology Browser

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 

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: ; "Seattleseq" ; ; "VAT" ;   loinc:LA6699-8 "Nonsense"
Definition Sources: SO:ke

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