FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
CV Term Report
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General Information
Term missense_variant ID (Ontology) SO:0001583 (Sequence Ontology)
Definition A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved.
Also Known As "Jannovar:missense_variant" ; "missense" ; "missense codon" (for all, see Synonyms field below)
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SO.org
Annotations
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 Alleles
 missense_variant (all annotations which use CV term, excluding "NOT" statements)    8928
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  inframe_variant
   |__nonsynonymous_variant
       |__missense_variant  8928 rec.
           |__conservative_missense_variant
           |__non_conservative_missense_variant
               |__rare_amino_acid_variant(+)
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Is a nonsynonymous_variant
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Synonyms
  • "ANNOVAR:nonsynonymous SNV" RELATED VAR
    "Jannovar:missense_variant" EXACT VAR
    "missense" EXACT
    "missense codon" EXACT
    "Seattleseq:missense" EXACT VAR
    "Seattleseq:missense-near-splice" RELATED VAR
    "snpEff:NON_SYNONYMOUS_CODING" EXACT VAR
    "VAAST:missense_variant" EXACT VAR
    "VAAST:non_synonymous_codon" RELATED VAR
    "VAT:nonsynonymous" EXACT VAR
    "VEP:missense_variant" EXACT VAR
Secondary IDs
hide External Crossreferences & Linkouts
EBI:www.ebi.ac.uk/mutations/recommendations/mutevent.html
http://en.wikipedia.org/wiki/Missense_mutation
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:LA6698-0 "Missense"