splice_region_variant
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.
SO:0001568
splicing_variant
is_a
ANNOVAR:splicing
related
Jannovar:splice_region_variant
exact
VAAST:splice_region_variant
exact
VEP:splice_region_variant
exact
snpEff:SPLICE_SITE_BRANCH
related
snpEff:SPLICE_SITE_BRANCH_U12
related
snpEff:SPLICE_SITE_REGION
exact
splice region variant
exact