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Pratt VM, Scott SA, Pirmohamed M, et al., editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012-.

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Medical Genetics Summaries [Internet].

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Common allele nameAlternative namesHGVS reference sequencedbSNP reference identifier for allele location
CodingProtein
CYP2C9*2 430C>T
Arg144Cys
NM_000771.3:c.430C>T NP_000762.2:p.Arg144Cys rs1799853
CYP2C9*3 1075A>C
Ile359Leu
NM_000771.3:c.1075A>C NP_000762.2:p.Ile359Leu rs1057910
CYP2C9*5 1080C>G
Asp360Glu
NM_000771.3:c.1080C>G NP_000762.2:p.Asp360Glu rs28371686
CYP2C9*6 818delA
Lys273Argfs
NM_000771.3:c.817delA NP_000762.2:p.Lys273Argfs rs9332131
CYP2C9*8 449G>A
Arg150His
NM_000771.3:c.449G>A NP_000762.2:p.Arg150His rs7900194
CYP2C9*11 1003C>T
Arg335Trp
NM_000771.3:c.1003C>TNP_000762.2:p.Arg335Trp rs28371685

Note: the normal “wild-type” allele is CYP2C9*1 and is reported when no variant is detected.

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting (31).

Guidelines for the description and nomenclature of gene variations are available from the Human Genome Variation Society (HGVS).

Nomenclature for cytochrome P450 enzymes is available from Pharmacogene Variation (PharmVar) Consortium.

From: Lesinurad Therapy and CYP2C9 Genotype

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