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The Sequence Types and Features Ontology (SO) is downloaded weekly from the SourceForge CVS repository at For more information about this ontology, see the Sequence Ontology Home Page at

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Accession:SO:0001630 term browser browse the term
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.
Comment:EBI term: splice site - 1-3 bps into an exon or 3-8 bps into an intron.
Synonyms:exact_synonym: Jannovar:splice_region_variant;   VAAST:splice_region_variant;   VEP:splice_region_variant;   snpEff:SPLICE_SITE_REGION;   splice region variant
 related_synonym: ANNOVAR:splicing;   snpEff:SPLICE_SITE_BRANCH;   snpEff:SPLICE_SITE_BRANCH_U12

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Path 1
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  SO ontology 0
    sequence_variant 0
      structural_variant 0
        feature_variant 0
          gene_variant 0
            transcript_variant 0
              splicing_variant 0
                splice_region_variant 0
                  exonic_splice_region_variant 0
                  non_coding_transcript_splice_region_variant 0
                  splice_donor_region_variant 0
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