| Term Name: | splice_site_variant |
|---|---|
| Synonyms: | essential_splice_site, splice site variant, VAT:spliceOverlap |
| Definition: | A sequence variant that changes the first two or last two bases of an intron, or the 5th base from the start of the intron in the orientation of the transcript. |
| Ontology: | Sequence Ontology [SO:0001629] |