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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