| Term Name: | exonic_splice_region_variant |
|---|---|
| Synonyms: | ANNOVAR:exonic;splicing, exonic splice region variant, Seattleseq:coding-near-splice |
| Definition: | A sequence variant in which a change has occurred within the exonic region of the splice site, 1-2 bases from boundary. |
| Ontology: | Sequence Ontology [SO:0002084] |