OBO ID: SO:0001630
Term Name: splice_region_variant Search Ontology:
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. http://ensembl.org/info/docs/variation/index.html
References:
Ontology: Sequence Ontology
PHENOTYPE No data available