Difference between revisions of "Unknown function"

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==Alleles with unknown biochemical consequence==
 
==Alleles with unknown biochemical consequence==
 
There are at least three kind of alleles that have unknown biochemical function
 
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
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*Known 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 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
 
*Alleles with variants that do not cause changes to the protein, and which are not classified by PharmGKB
  
 
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The dosing recommendation for patients with ''Unknown functional status'' is to follow the normal medication advice. This means that
 
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*If the patient has an allele with unknown function, the recommended action is to follow normal dosing regime, even if the other allele has ''No function''.  
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==
 
==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.
 
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
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There are at least two normal

Revision as of 11:05, 13 July 2018

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 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 functional status is to follow the normal medication advice. This means that

  • If the patient has an allele with unknown function, the recommended action is to follow normal dosing regime, even if the other allele has No 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 normal