Table 3.

AMP PGx (2018) CYP2C19 Tier 1 Variant Alleles.

AlleleAllele functional statusaDefining functional variantMultiethnic allele frequency, %
CYP2C19*2 No functionrs424428512-54
CYP2C19*3 No functionrs49868930.3-15
CYP2C19*17 Increased functionrs122485604-21
a

Citations for assignment of function can be found at PharmGKB Gene-specific Information for CYP2C19.

Note that the defining *2 variant (rs4244285) is most likely linked with the defining variant of the *35 allele (rs12769205); however, the *35 definition includes rs12769205 without rs4244285.

From: Brivaracetam Therapy and CYP2C19 Genotype

Cover of Medical Genetics Summaries
Medical Genetics Summaries [Internet].
Pratt VM, Scott SA, Pirmohamed M, et al., editors.
Copyright Notice

All Medical Genetics Summaries content, except where otherwise noted, is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) license which permits copying, distribution, and adaptation of the work, provided the original work is properly cited and any changes from the original work are properly indicated. Any altered, transformed, or adapted form of the work may only be distributed under the same or similar license to this one.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.