Term Name: splice_site_variant
Synonyms: essential_splice_site, splice site variant, VAT:spliceOverlap
Definition: A sequence variant that changes the first two or last two bases of an intron, or the 5th base from the start of the intron in the orientation of the transcript.
Ontology: Sequence Ontology [SO:0001629]

Relationships
is a type of: intron_variant splicing_variant
has subtype: splice_acceptor_variant splice_donor_5th_base_variant splice_donor_variant