splice_region_variant [SO_0001630]

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.

splice_region_variant

ID: SO_0001630

Class

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.

EBI term: splice site - 1-3 bps into an exon or 3-8 bps into an intron.

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Classification

splicing_variant

Alternative Names

Synonym	Scope	Reference
snpEff:SPLICE_SITE_BRANCH	related synonym	VAR
ANNOVAR:splicing	related synonym	//www.openbioinformatics.org/annovar/annovar_download.html, VAR
snpEff:SPLICE_SITE_BRANCH_U12	related synonym	VAR
splice region variant	exact synonym	//ensembl.org/info/docs/variation/index.html
VEP:splice_region_variant	exact synonym	VAR
VAAST:splice_region_variant	exact synonym	VAR
Jannovar:splice_region_variant	exact synonym	//doc-openbio.readthedocs.org/projects/jannovar/en/master/var_effects.html
snpEff:SPLICE_SITE_REGION	exact synonym	VAR

References

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d", "label": "" }, "FlyBase": "", "PubMed": "", "DOI": "" } }, { "synonym": { "scope": "has_exact_synonym", "label": "VAAST:splice_region_variant", "type": "" }, "pub": { "core": { "symbol": "", "iri": "http://flybase.org/reports/Unattributed", "types": [ "Entity", "Individual", "pub" ], "short_form": "Unattributed", "label": "" }, "FlyBase": "", "PubMed": "", "DOI": "" } }, { "synonym": { "scope": "has_exact_synonym", "label": "VEP:splice_region_variant", "type": "" }, "pub": { "core": { "symbol": "", "iri": "http://flybase.org/reports/Unattributed", "types": [ "Entity", "Individual", "pub" ], "short_form": "Unattributed", "label": "" }, "FlyBase": "", "PubMed": "", "DOI": "" } }, { "synonym": { "scope": "has_related_synonym", "label": "snpEff:SPLICE_SITE_BRANCH_U12", "type": "" }, "pub": { "core": { "symbol": "", "iri": "http://flybase.org/reports/Unattributed", "types": [ "Entity", "Individual", "pub" ], "short_form": "Unattributed", "label": "" }, "FlyBase": "", "PubMed": "", "DOI": "" } }, { "synonym": { "scope": "has_related_synonym", "label": "snpEff:SPLICE_SITE_BRANCH", "type": "" }, "pub": { "core": { "symbol": "", "iri": "http://flybase.org/reports/Unattributed", "types": [ "Entity", "Individual", "pub" ], "short_form": "Unattributed", "label": "" }, "FlyBase": "", "PubMed": "", "DOI": "" } }, { "synonym": { "scope": "has_related_synonym", "label": "ANNOVAR:splicing", "type": "http://purl.obolibrary.org/obo/so#VAR" }, "pub": { "core": { "symbol": "", "iri": "http://flybase.org/reports/Unattributed", "types": [ "Entity", "Individual", "pub" ], "short_form": "Unattributed", "label": "" }, "FlyBase": "", "PubMed": "", "DOI": "" } } ], "def_pubs": [] }

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