splice_region_variant SO_0001630
splice_region_variant
ID: SO_0001630
Class
A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron.
EBI term: splice site - 1-3 bps into an exon or 3-8 bps into an intron.
Open in VFB 3D Browser →Classification
Alternative Names
| Synonym | Scope | Reference |
|---|---|---|
| snpEff:SPLICE_SITE_BRANCH | related synonym | VAR |
| ANNOVAR:splicing | related synonym | //www.openbioinformatics.org/annovar/annovar_download.html, VAR |
| snpEff:SPLICE_SITE_BRANCH_U12 | related synonym | VAR |
| splice region variant | exact synonym | //ensembl.org/info/docs/variation/index.html |
| VEP:splice_region_variant | exact synonym | VAR |
| VAAST:splice_region_variant | exact synonym | VAR |
| Jannovar:splice_region_variant | exact synonym | //doc-openbio.readthedocs.org/projects/jannovar/en/master/var_effects.html |
| snpEff:SPLICE_SITE_REGION | exact synonym | VAR |