splice_site_variant    (CURRENT_RELEASE)

SO Accession: SO:0001629 (SOWiki)
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.
Synonyms: essential_splice_site, splice site variant, VAT:spliceOverlap
DB Xrefs: URL: http://ensembl.org/info/docs/variation/index.html  

Parents: intron_variant (SO:0001627)
splicing_variant (SO:0001568)

Children: splice_acceptor_variant (SO:0001574)
splice_donor_variant (SO:0001575)
splice_donor_5th_base_variant (SO:0001787)
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Graph image for SO:0001629