frameshift_variant

Term ID

SO:0001589

Synonyms

• ANNOVAR:frameshift block substitution
• ANNOVAR:frameshift substitution
• frameshift variant
• frameshift_
• frameshift_coding
• Jannovar:frameshift_variant
• Seattleseq:frameshift
• Seattleseq:frameshift-near-splice
• snpEff:FRAME_SHIFT
• VAAST:frameshift_variant
• VAT:deletionFS
• VAT:insertionFS
• VEP:frameshift_variant

Definition

A sequence variant which causes a disruption of the translational reading frame, because the number of nucleotides inserted or deleted is not a multiple of three.

References

• 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:LA6694-9

Ontology

Sequence Ontology