[Table, Nomenclature for Selected G6PD Alleles]. - Medical Genetics Summaries

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Common allele name / condition	Alternative names / condition	HGVS reference sequence		WHO Classification*	dbSNP reference identifier for allele location
Common allele name / condition	Alternative names / condition	Coding	Protein		dbSNP reference identifier for allele location
G6PD B	WT	NM_001042351.3	NP_001035810.1	IV/ Normal	--
G6PD A+	p.Asn126Asp	NM_001042351.3:c.376A>G	NP_001035810.1:p.Asn126Asp	IV/ Normal	rs1050828
G6PD Sao Borja	p.Asp113Asn	NM_001042351.3:c.337G>A	NP_001035810.1:p.Asp113Asn	IV/ Normal	rs5030870
G6PD A-	A-^202A/376G	NM_001042351.3:c.376A>G	NP_001035810.1:p.Asn126Asp	III/ Deficient (B)	rs1050828 rs1050829
G6PD A-	A-^202A/376G	NM_001042351.3:c.202G>A	NP_001035810.1:p.Val68Met	III/ Deficient (B)	rs1050828 rs1050829
G6PD A-	A-^680T/376G	NM_001042351.3:c.376A>G	NP_001035810.1:p.Asn126Asp	III/ Deficient	rs1050828 rs137852328
G6PD A-	A-^680T/376G	NM_001042351.3:c.680G>T	NP_001035810.1:p.Arg227Leu	III/ Deficient	rs1050828 rs137852328
G6PD A-	A-^968C/376G	NM_001042351.3:c.376A>G	NP_001035810.1:p.Asn126Asp	III/ Deficient (B)	rs1050828 rs76723693
G6PD A-	A-^968C/376G	NM_001042351.3:c.968T>C	NP_001035810.1:p.Leu323Pro	III/ Deficient (B)	rs1050828 rs76723693
G6PD Bangkok	p.Lys275Asn	NM_001042351.3:c.202G>A	NP_001035810.1:p.Val68Met	III/ Deficient (A)
G6PD Kalyan-Kerala	p.Glu317Lys	NM_001042351.3:c.949G>A	NP_001035810.1:p.Glu317Lys	III/ Deficient (U)	rs137852339
G6PD Orissa	p.Ala44Gly	NM_001042351.3:c.131C>G	NP_001035810.1:p.Ala44Gly	III/ Deficient (B)	rs78478128
GP6D Canton	p.Arg459Leu	NM_001042351.3:c.1376G>T	NP_001035810.1:p.Arg459Leu	II/ Deficient (B)	rs72554665
G6PD Chatham	p.Ala335Thr	NM_001042351.3:c.1003G>A	NP_001035810.1:p.Ala335Thr	II/ Deficient (B)	rs5030869
G6PD Mediterranean	p.Ser188Phe	NM_001042351.3:c.563C>T	NP_001035810.1:pSer188Phe	II/ Deficient (A)	rs5030868
G6PD Viangchan	p.Val291Met	NM_001042351.3:c.871G>A	NP_001035810.1:p.Val291Met	II/ Deficient (B)	rs137852327
G6PD Villeurbanne	p.Thr334del	NM_001042351.3:c.1000_1002delACC	NP_001035810.1:pThr334del	I/Deficient with CNSHA

: Additional allele information available from PharmGKB and CPIC’s G6PD Allele Definition Table (revised 2018).
: Guidelines for the description and nomenclature of gene variations are available from the Human Genome Variation Society (HGVS).
*: WHO classifications based on (89), classification of these alleles under the updated WHO categories are taken from work described in (90) and the data deposited at (91). Please note that not all alleles have an updated classification at the time of writing.
WHO - World Health Organization; PharmGKB - Pharmacogenomics Knowledgebase; CPIC - Clinical Pharmacogenetics Implementation Consortium; CNSHA - chronic non-spherocytic hemolytic anemia, G6PD - glucose-6-phosphate dehydrogenase

From: Chloroquine Therapy and G6PD Genotype

Medical Genetics Summaries [Internet].

Pratt VM, Scott SA, Pirmohamed M, et al., editors.

Bethesda (MD): National Center for Biotechnology Information (US); 2012-.

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