missense_variant

Term ID

SO:0001583

Synonyms

• 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

• 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