functionally_abnormal    (CURRENT_RELEASE)

SO Accession: SO:0002218 (SOWiki)
Definition: A sequence variant in which the function of a gene product is altered with respect to a reference.
Synonyms: function_modified_variant, functionally abnormal, function modified variant

Parent: functional_effect_variant (SO:0001536)

Children: loss_of_function_variant (SO:0002054)
NMD_triggering_variant (SO:0002319)
transcript_function_variant (SO:0001538)
gain_of_function_variant (SO:0002053)
null_mutation (SO:0002055)
NMD_escaping_variant (SO:0002320)
dominant_negative_variant (SO:0002052)
loss_of_heterozygosity (SO:0001786)
translational_product_function_variant (SO:0001539)
lethal_variant (SO:0001773)
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