Term Name: |
splice_region_variant |
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Search Ontology:
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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
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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
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References: |
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Ontology: |
Sequence Ontology
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