Unknown function
Alleles with unknown biochemical function
Unknown funtion means that the biochemical function of the allele is unknown or uncertain. There are at least three kind of alleles that have unknown biochemical function
- PGx alleles that are classified with Unknown function 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
The dosing recommendation for patients with unknown biochemical function on at least one chromatid is to follow the normal medication advice. This means that normal medication is recommended, even if the sister-chromatid has No function or Increased function.
This dosing recommendation is very conservative, and the question is whether the allele with Unknown function should rather be treated as a Normal function allele.
Alleles with normal biochemical function
Normal function means that the biochemical function of the allele is sufficiently close to the average that a normal medication recommendation can be used. There are at least three kind of alleles that have normal biochemical function
- PGx alleles that are classified with Normal function status by PharmGKB
- Any allele that is not classified by PharmGKB
- An allele with no variants
In other words: the definitions Normal function and Unknown function are partially overlapping.
