splice_region_variant    (CURRENT_SVN)

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, snpEff:SPLICE_SITE_BRANCH, snpEff:SPLICE_SITE_BRANCH_U12, Jannovar:splice_region_variant, snpEff:SPLICE_SITE_REGION, splice region variant, VAAST:splice_region_variant, VEP:splice_region_variant
DB Xrefs: URL: http://ensembl.org/info/docs/variation/index.html  

Parent: splicing_variant (SO:0001568)

Children: non_coding_transcript_splice_region_variant (SO:0002088)
exonic_splice_region_variant (SO:0002084)
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