Term Name: | exonic_splice_region_variant |
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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] |