FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
CV Term Report
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General Information
Term stop_gained ID (Ontology) SO:0001587 (Sequence Ontology)
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.
Also Known As "ANNOVAR:stopgain" ; "Jannovar:stop_gained" ; "nonsense" (for all, see Synonyms field below)
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SO.org
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 stop_gained (all annotations which use CV term, excluding "NOT" statements)     353
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inframe_variant
 |__nonsynonymous_variant__
feature_variant            |
 |__feature_truncation_____|
                           stop_gained  353 rec.
                            |__stop_gained_NMD_escaping
                            |__stop_gained_NMD_triggering
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Is a feature_truncation
nonsynonymous_variant
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Synonyms
  • "ANNOVAR:stopgain" EXACT VAR
    "Jannovar:stop_gained" EXACT VAR
    "nonsense" EXACT dbsnp
    "nonsense codon" EXACT
    "Seattleseq:stop-gained" EXACT VAR
    "Seattleseq:stop-gained-near-splice" RELATED VAR
    "snpEff:STOP_GAINED" EXACT VAR
    "stop codon gained" RELATED
    "stop gained" EXACT ebi_variants
    "VAAST:stop_gained" EXACT VAR
    "VAT:prematureStop" EXACT VAR
    "VEP:stop_gained" EXACT VAR
Secondary IDs
hide External Crossreferences & Linkouts
http://ensembl.org/info/genome/variation/prediction/predicted_data.html
http://snp.gs.washington.edu/SeattleSeqAnnotation137/HelpHowToUse.jsp "Seattleseq"
http://snpeff.sourceforge.net/SnpEff_manual.html
http://vat.gersteinlab.org/formats.php "VAT"
loinc:LA6699-8 "Nonsense"