frameshift_variant
SO:0001589
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.
Comments and references
EBI term:Frameshift variations - In coding sequence, resulting in a frameshift.
Definition references: SO:ke
Synonyms
| Scope | Value |
|---|---|
| exact | Jannovar:frameshift_variant |
| exact | Seattleseq:frameshift |
| exact | VAAST:frameshift_variant |
| exact | VEP:frameshift_variant |
| exact | frameshift variant |
| exact | frameshift_ |
| exact | frameshift_coding |
| exact | snpEff:FRAME_SHIFT |
| related | ANNOVAR:frameshift block substitution |
| related | ANNOVAR:frameshift substitution |
| related | Seattleseq:frameshift-near-splice |
| narrow | VAT:deletionFS |
| narrow | VAT:insertionFS |
Identifiers and subsets
Accession: SO:0001589
Persistent URL: http://purl.obolibrary.org/obo/SO_0001589
Alternate IDs: None
Subsets: None
Cross 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
History summary
Term history is reconstructed from the Git-era ontology files by comparing ontology classes across revisions. Earlier SVN-era changes will be added at a future date.
First seen in Git-era editable history: 2016-12-05 in commit 92e3cae
Most recent Git-era change: 2016-12-05 in commit 92e3cae
Number of changes: 1
Ontology neighborhood diagram
Relationships
Parents
Children
- SO:0001910 - frameshift_truncation
- SO:0001595 - plus_2_frameshift_variant
- SO:0001593 - minus_2_frameshift_variant
- SO:0001594 - plus_1_frameshift_variant
- SO:0001591 - frame_restoring_variant
- SO:0001592 - minus_1_frameshift_variant
- SO:0001909 - frameshift_elongation
- SO:0002324 - frameshift_variant_NMD_escaping
- SO:0002323 - frameshift_variant_NMD_triggering
Change history
This timeline summarizes changes identified in SO’s GitHub commit history, including updates to labels, definitions, parent terms, synonyms, subsets, and obsoletion status. It is a best-effort reconstruction and may not include every change to a term. Since only history from GitHub is included at the moment, any term added before the migration from SVN to Git will show as being created in 2016. This will be addressed once SVN history is incorporated.
| Date | Change | Summary | Evidence |
|---|---|---|---|
| 2016-12-05 | created | Term introduced into the editable ontology history Initial label: frameshift_variant Initial definition captured. Initial parent: SO:0001818 | 92e3cae |