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Unknown function

1,702 bytes added, 12:59, 28 August 2018
Alleles with normal biochemical function
==Alleles with unknown bio-chemical consequencebiochemical function==In ''Unknown funtion'' means that the biochemical function of the CPIC guidelines, some PGx allele is unknown or uncertain.There are at least four kind of alleles that have unknown bio-chemical biochemical function* PGx alleles that are classified with ''Unknown function'' status by PharmGKB* PGx alleles that are listed by PharmGKB, but has no functional status* Unknown alleles with variants that cause changes to the protein, but which are not classified by PharmGKB* Unknown alleles with variants that do not cause changes to the protein, and which are not classified by PharmGKB There is no explicit dosing recommendation for patients with an unknown biochemical function allele on at least one chromatid. The This means that there is no special medication recommendation '''even if the sister-chromatid has ''No function'' or ''Increased function'''''. This dosing recommendation for such patient 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==Normal function means that the biochemical function of the allele is sufficiently close to follow the average that a normal medication advicerecommendation can be used. There Alleles with normal biochemical function are * PGx-alleles that are classified with bio''Normal function'' status by PharmGKB* alleles with no variants (these "wildtype" alleles are usually explicitly classified as ''Normal function'' by PharmGKB, but not always)In addition, at least in the world of SNP-chemical 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 otherwise''Unknown function'' are overlapping. If we replace the ''Unknown function'' classification with ''Normal function'', all dosing recommendations for these patients without a known PGx-allele match also have unknown functionto be changed accordingly.