Term Name: | splice_region_variant |
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Synonyms: | ANNOVAR:splicing, Jannovar:splice_region_variant, snpEff:SPLICE_SITE_BRANCH, snpEff:SPLICE_SITE_BRANCH_U12, snpEff:SPLICE_SITE_REGION, splice region variant, VAAST:splice_region_variant, VEP:splice_region_variant |
Definition: | 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. |
Ontology: | Sequence Ontology [SO:0001630] |