Link

Relation: is_splice_site_variant_of

holds between a sequence variant and a gene, such the sequence variant is in the canonical splice site of one of the gene’s exons.

URI: biolink:is_splice_site_variant_of

Domain and Range

SequenceVariant -> 0..* Gene

Parents

Children

Used by

Other properties

     
Exact Mappings:   SO:0001629
Narrow Mappings:   SNPEFF:splice_region_variant
    SNPEFF:splice_acceptor_variant
    SNPEFF:splice_donor_variant