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Variant classification

^ http://edamontology.org/operation_3225


Classify variants based on their potential effect on genes, especially functional effects on the expressed proteins.

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operations, edam

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Variants are typically classified by their position (intronic, exonic, etc.) in a gene transcript and (for variants in coding exons) by their effect on the protein sequence (synonymous, non-synonymous, frameshifting, etc.)