mutation_affecting_splicing (RELEASE_2.2) |
|
|---|---|
| SO Accession: | SO:1000071 (SOWiki) |
| Definition: | A mutation that affects the way in which the primary transcriptional product is processed to form the mature transcript, specifically by the removal (splicing) of intron sequences. |
| DB Xrefs: | URL: http://www.ebi.ac.uk/mutations/recommendations/mutevent.html |
| Parent: | mutation (SO:1000132) |
| Children: | splice_acceptor_mutation (SO:1000073) |
| mutation_causes_intron_gain (SO:1000185) | |
| mutation_causes_exon_loss (SO:1000184) | |
| splice_donor_mutation (SO:1000072) | |
| cryptic_splice_activator_mutation (SO:1000074) | |
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