splice_region_variant

Term ID

SO:0001630

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. http://ensembl.org/info/docs/variation/index.html

References

• http://snpeff.sourceforge.net/SnpEff_manual.html
• http:www.ensembl.org/info/genome/variation/predicted_data.html#consequences

Ontology

Sequence Ontology