Variant classification

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

http://edamontology.org/operation_3225

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.)

1.1

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

http://edamontology.org/bio

http://edamontology.org/operations

Variant classification

operation_3225

Variant classification

http://edamontology.org/operation_3197

http://edamontology.org/operation_2995