Term Name: splice_donor_variant
Synonyms: Jannovar:splice_donor_variant, Seattleseq:splice-donor, snpEff:SPLICE_SITE_DONOR, splice donor variant, VAAST:splice_donor_variant, VEP:splice_donor_variant
Definition: A splice variant that changes the 2 base pair region at the 5' end of an intron.
Ontology: Sequence Ontology [SO:0001575]

Relationships
is a type of: splice_site_variant
has subtype: splice_donor_variant_NMD_escaping splice_donor_variant_NMD_triggering