rs1050828 in G6PD,IKBKG

Clinical Annotations

PharmGKB clinical annotations provide information about variant-drug pairs based on a summary of the individual variant annotations in the database. Therefore, each clinical annotation could represent information from a single paper or multiple papers. The rating system used to assign "Strength of Evidence" levels is described here. The individual variant annotations, including the PMID for each supporting PubMed publication, can be found on the "PGx Research" tab above.

This information is manually curated by PharmGKB. All alleles are displayed on the positive chromosomal strand.

PharmGKB variant annotations provide information about variant-drug pairs or variant-disease pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.

Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.

List of all variant annotations for this variant.

Variant Overview

VIP Variant in G6PD

Variant Common Name: Asahi

The Asahi variant (rs1050828) is a G>A nucleotide change at position 202 (NM_001042351.1:c.), which confers a missense mutation Val to Met in the G6PD protein sequence (NP_001035810.1:p.) at position 68 [Articles:12064901, 11852882]. This was originally identified in a Japanese boy omitted to the Asahi hospital with Jaundice and Anemia, who had been previously diagnosed with Neonatal Jaundice [Article:11852882]. Due to its association with acute hemolysis, the Asahi variant is classified as a Class III phenotype (see Table 1) [Article:11852882]. Sequencing of the whole G6PD gene in this child also revealed a single base pair deletion in intron 5 [Article:11852882], which could also contribute to the risk of hemolysis. Asahi has also been reported to occur in Southern China (a single female in the cohort) [Article:17018380]. Asahi is thought to be a rare variant, occurring independently from the A- haplotype common in Africa, as the A variant and other polymorphic sites found to be in linkage disequilibrium with A-202A/ 376G were not found in this individual [Articles:11852882, 1924316].

Table 1: Classification of G6PD variants

Table based on [Articles:18177777, 2633878, 8364584, 7949118, 5316621].

The G6PD gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand, therefore the alleles within our variant annotations and haplotypes will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.

Citation	PharmGKB summary: very important pharmacogene information for G6PD. Pharmacogenetics and genomics. 2012. McDonagh Ellen M, Thorn Caroline F, Bautista José M, Youngster Ilan, Altman Russ B, Klein Teri E.
Reviewed	10/31/2011
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