exon_loss_variant [SO_0001572]

A sequence variant whereby an exon is lost from the transcript.

exon_loss_variant

ID: SO_0001572

Class

A sequence variant whereby an exon is lost from the transcript.

Added "skipped exon" as a synonym of exon_loss_variant at the request of Melissa Landrum of the NCBI on 31 July 2025 (see GitHub issue #657).

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Classification

splicing_variant

Alternative Names

Synonym	Scope	Reference
skipped exon	exact synonym	31275557
Jannovar:exon_loss_variant	exact synonym	//doc-openbio.readthedocs.org/projects/jannovar/en/master/var_effects.html
exon loss	exact synonym
snpEff:EXON_DELETED	exact synonym	VAR

References

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"label": "" }, "FlyBase": "", "PubMed": "", "DOI": "" } }, { "synonym": { "scope": "has_exact_synonym", "label": "snpEff:EXON_DELETED", "type": "" }, "pub": { "core": { "symbol": "", "iri": "http://flybase.org/reports/Unattributed", "types": [ "Entity", "Individual", "pub" ], "short_form": "Unattributed", "label": "" }, "FlyBase": "", "PubMed": "", "DOI": "" } } ], "def_pubs": [ { "core": { "symbol": "", "iri": "http://flybase.org/reports/Unattributed", "types": [ "Entity", "Individual", "pub" ], "short_form": "Unattributed", "label": "" }, "FlyBase": "", "PubMed": "", "DOI": "" } ] }

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