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The Sequence Types and Features Ontology (SO) is downloaded weekly from the SourceForge CVS repository at For more information about this ontology, see the Sequence Ontology Home Page at

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Accession:SO:0002218 term browser browse the term
Definition:A sequence variant in which the function of a gene product is altered with respect to a reference.
Comment:Added after request from Lea Starita, from the NCBI Feb 2019.
Synonyms:exact_synonym: function modified variant
 related_synonym: function_modified_variant;   functionally abnormal

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Path 1
Term Annotations click to browse term
  SO ontology 0
    sequence_variant 0
      functional_effect_variant 0
        functionally_abnormal 0
          NMD_escaping_variant + 0
          NMD_triggering_variant + 0
          dominant_negative_variant 0
          gain_of_function_variant 0
          lethal_variant 0
          loss_of_function_variant 0
          loss_of_heterozygosity 0
          null_mutation + 0
          transcript_function_variant + 0
          translational_product_function_variant + 0
paths to the root