Term Name: functionally_abnormal
Synonyms: function modified variant, function_modified_variant, functionally abnormal
Definition: A sequence variant in which the function of a gene product is altered with respect to a reference.
Ontology: Sequence Ontology [SO:0002218]

Relationships
is a type of: functional_effect_variant
has subtype: dominant_negative_variant gain_of_function_variant lethal_variant loss_of_function_variant loss_of_heterozygosity NMD_escaping_variant NMD_triggering_variant null_mutation transcript_function_variant translational_product_function_variant