Search Ontology:
Sequence Ontology
missense_variant
- Term ID
- SO:0001583
- Synonyms
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- ANNOVAR:nonsynonymous SNV
- Jannovar:missense_variant
- missense
- missense codon
- non_synonymous_coding
- Seattleseq:missense
- Seattleseq:missense-near-splice
- snpEff:NON_SYNONYMOUS_CODING
- VAAST:missense_variant
- VAAST:non_synonymous_codon
- VAT:nonsynonymous
- VEP:missense_variant
- Definition
- A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved.
- References
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- EBI:www.ebi.ac.uk/mutations/recommendations/mutevent.html
- http://en.wikipedia.org/wiki/Missense_mutation
- http://snp.gs.washington.edu/SeattleSeqAnnotation137/HelpHowToUse.jsp
- http://snpeff.sourceforge.net/SnpEff_manual.html
- http://vat.gersteinlab.org/formats.php
- http:www.ensembl.org/info/genome/variation/predicted_data.html#consequences
- loinc:LA6698-0
- Ontology
- Sequence Ontology
- is a type of
-
- has subtype
-