splice_region_variant    (CURRENT_RELEASE)

SO Accession: SO:0001630 (SOWiki)
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.
Synonyms: ANNOVAR:splicing, splice region variant, VAAST:splice_region_variant
DB Xrefs: URL: http://ensembl.org/info/docs/variation/index.html  

Parent: splicing_variant (SO:0001568)
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