FB2024_03 , released June 25, 2024
FB2024_03 , released June 25, 2024
CV Term Report
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General Information
Term loss_of_function_variant ID (Ontology) SO:0002054 (Sequence Ontology)
Definition A sequence variant whereby the gene product has diminished or abolished function.
Also Known As "loss of function variant"
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 loss_of_function_variant (all annotations which use CV term, excluding "NOT" statements)      52
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  functional_effect_variant
   |__functionally_abnormal
       |__loss_of_function_variant  52 rec.
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Is a functionally_abnormal
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