Allele namedbSNP reference identifier for allele location
HLA-B*15:02 Tagged variants cannot be reliably used to detect this allele. Sequencing is the most accurate technique for allele detection.

For the major histocompatibility complex region, variations in genes such as HLA-B occur across the whole sequence of the gene, not a single locus. Therefore, the HLA-B*15:02 allele is defined by its sequence rather than single coding or protein variations. If there is strong linkage disequilibrium between one or more SNPs and a specific HLA allele, the presence of these SNPs (tag SNPs) may be used for HLA typing in some populations; however, genotyping tagged variants should not be considered diagnostic or equivalent to actual HLA testing. For HLA-B*15:02, rs2844682 and rs3909184 were previously considered the tagged variants (47), however, these variants have shown to be less accurate in other studies (48). Other tagged variants have been suggested, however, the sensitivity and accuracy of these variants to detect the HLA-B*15:02 allele is limited (49, 50). Sequence for the full HLA-B*15:02 allele (and subtypes) can be accessed here.

Guidelines on nomenclature of the HLA system are available from HLA Nomenclature: http://hla​.alleles.org/

From: Phenytoin Therapy and HLA-B*15:02 and CYP2C9 Genotype

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