296
edits
Changes
→Alleles with normal biochemical function
* Unknown alleles with variants that do not cause changes to the protein, and which are not classified by PharmGKB
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 (thereby assigning modified dosing recommendations to e.g. ''Unknown function''/''No function''-patients).
==Alleles with normal biochemical function==
Alleles with normal biochemical function are
* PGx alleles that are classified with ''Normal function'' status by PharmGKB
* alleles with no variants (which these "wildtype" alleles are usually contained in the PGx alleles that are explicitly classified as ''Normal function'' by PharmGKB, but not always)
In addition, at least in the world of SNP-arrays, the definition of ''Normal function'' alleles and ''Unknown function'' alleles are overlapping
* Alleles that are '''not''' classified (by PharmGKB ) have ''Normal function''
In other words: the definitions ''Normal function'' and ''Unknown function'' are overlapping.
If we replace the ''Unknown function'' classification with ''Normal function'', dosing recommendations for these patients have to be changed accordingly.