Term Name: splice_region_variant
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]

Relationships
is a type of: splicing_variant
has subtype: exonic_splice_region_variant non_coding_transcript_splice_region_variant splice_donor_region_variant