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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
missense variant +  
A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved.
redundant inserted stop gained 
start lost 
stop gained 
stop lost 

Synonyms
Exact Synonyms: Jannovar:missense_variant ;   Seattleseq:missense ;   VAAST:missense_variant ;   VAT:nonsynonymous ;   VEP:missense_variant ;   missense ;   missense codon ;   snpEff:NON_SYNONYMOUS_CODING
Related Synonyms: ANNOVAR:nonsynonymous SNV ;   Seattleseq:missense-near-splice ;   VAAST:non_synonymous_codon
Alternate IDs: SO:0001584 ;   SO:0001783
Xrefs: 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"
Definition Sources: EBI:fc, EBI:gr, 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.