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SO Term : splice_region_variant [SO:0001630] Sequence Ontology
Namespace  sequence Obsolete  false
description  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.
  • synonyms:
  • snpEff:SPLICE_SITE_BRANCH,
  • snpEff:SPLICE_SITE_BRANCH_U12,
  • snpEff:SPLICE_SITE_REGION,
  • ANNOVAR:splicing,
  • Jannovar:splice_region_variant,
  • splice region variant,
  • VEP:splice_region_variant,
  • VAAST:splice_region_variant
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