Unknown function

Alleles with unknown biochemical consequence

There are at least three kind of alleles that have unknown biochemical function

• Known PGx alleles that are classified with unknown functional status by PharmGKB
• Alleles with variants that cause changes to the protein, but which are not classified by PharmGKB
• Alleles with variants that do not cause changes to the protein, and which are not classified by PharmGKB

In the CPIC guidelines, some PGx alleles have unknown biochemical functional status. The dosing recommendation for such patients is to follow the normal medication advice. There are PGx-alleles that are classified with biochemical function, and otherwise, all patients without a known PGx-allele match also have unknown function.

Alleles with normal bio-chemical consequence

The bio-chemical function varies for all patients, and Normal function just means that the functional status is sufficiently close to the mean that the normal medication recommendation can be used. There are at least two kind of alleles that have normal