Table 3.
Allele | Allele functional status† | Defining functional variant | HGVS nomenclature: NM_000771.3 | HGVS nomenclature: NG_008385.1‡ | Reference material available§ | Multiethnic allele frequency |
---|---|---|---|---|---|---|
*2¶ | Decreased function | rs1799853 | c.430C>T, p.Arg144Cys | g.8633C>T | Yes | 0%–12% |
*3‖ | Decreased function | rs1057910 | c.1075A>C, p.Ile359Leu | g.47639A>C | Yes | 1%–11% |
*5 | Decreased function | rs28371686 | c.1080C>G, p.Asp360Glu | g.47644C>G | Yes | 0%–1% |
*6 | No function | rs9332131 | c.818del, p.Lys273Argfs*34 | g.15625delA | Yes | 0%–1% |
*8 | Decreased function | rs7900194 | c.449G>A, p.Arg150His | g.8652G>A | Yes | 0%–5% |
*11 | Decreased function | rs28371685 | c.1003C>T, p.Arg335Trp | g.47567C>T | Yes | 0%–2% |
HGVS, Human Genome Variation Society.
Citations for assignment of function can be found at https://www.pharmvar.org/gene/CYP2C9 (last accessed August 15, 2018).
CYP2C9 RefSeqGene.
Note that the defining variant of the *35 allele (c.374G>T, p.Arg125Leu) is likely in linkage disequilibrium with the defining *2 variant (c.430C>T, p.Arg144Cys)).
Note that the defining *18 variant of the allele (c.1190A>C, p.Asp397Ala, rs72558193) is likely in linkage disequilibrium with the defining variant of *3 variant (c.1075A>C, p.Ile359Leu, rs1057910).