splice_donor_variant
A splice variant that changes the 2 base pair region at the 5' end of an intron.
SO:0001629
splice_site_variant
is_a
Jannovar:splice_donor_variant
exact
Seattleseq:splice-donor
exact
VAAST:splice_donor_variant
exact
VEP:splice_donor_variant
exact
snpEff:SPLICE_SITE_DONOR
exact
splice donor variant
exact