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Review status:
no assertion criteria provided
1 (Most recent: Dec 30, 2010)
Last evaluated:
Mar 31, 2000
Variation ID:


Other names
G6PD Matera
G6PD Betica
G6PD Castilla
G6PD Distrito Federal
G6PD Tepic
Functional consequence
ClinGen: CA033016
OMIM: 305900.0002
This haplotype includes the following variants

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Mar 31, 2000 RCV000011075.15
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
G6PD - - GRCh38
222 461

Submitted interpretations and evidence

(Last evaluated)
Review status
(Assertion criteria)
Submitter Supporting information
(Mar 31, 2000)
no assertion criteria provided
Method: literature only
Allele origin: germline
Accession: SCV000031301.9
Submitted: (Dec 30, 2010)
Evidence details
PubMed (16)
Beutler, E., Matsumoto, F. A new  (more...)

Functional evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Title Author Journal Year Link
Assessment of glucose-6-phosphate dehydrogenase activity using CareStart G6PD rapid diagnostic test and associated genetic variants in Plasmodium vivax malaria endemic setting in Mauritania. Djigo OKM PloS one 2019 PMID: 31525211
Biochemical Analysis of Two Single Mutants that Give Rise to a Polymorphic G6PD A-Double Mutant. Ramírez-Nava EJ International journal of molecular sciences 2017 PMID: 29072585
Safety of a single low-dose of primaquine in addition to standard artemether-lumefantrine regimen for treatment of acute uncomplicated Plasmodium falciparum malaria in Tanzania. Mwaiswelo R Malaria journal 2016 PMID: 27287612
Glucose-6-Phosphate Dehydrogenase Deficiency. Luzzatto L Hematology/oncology clinics of North America 2016 PMID: 27040960
Mutations of Glucose-6-Phosphate Dehydrogenase Durham, Santa-Maria and A+ Variants Are Associated with Loss Functional and Structural Stability of the Protein. Gómez-Manzo S International journal of molecular sciences 2015 PMID: 26633385
Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya. Shah SS BMC medical genetics 2014 PMID: 25201310
Prevalence of G6PD Deficiency in Iran. Shahjahani M International journal of hematology-oncology and stem cell research 2013 PMID: 24505519
Humanized mouse model of glucose 6-phosphate dehydrogenase deficiency for in vivo assessment of hemolytic toxicity. Rochford R Proceedings of the National Academy of Sciences of the United States of America 2013 PMID: 24101478
Candidate human genetic polymorphisms and severe malaria in a Tanzanian population. Manjurano A PloS one 2012 PMID: 23144702
Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity. Dallol A Journal of translational medicine 2012 PMID: 23006493
Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach. B R PloS one 2011 PMID: 21931771
Unsuspected glucose-6-phosphate dehydrogenase deficiency presenting as symptomatic methemoglobinemia with severe hemolysis after fava bean ingestion in a 6-year-old boy. Odièvre MH International journal of hematology 2011 PMID: 21479984
Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans. Lo KS Human genetics 2011 PMID: 21153663
Chlorproguanil-dapsone-artesunate versus artemether-lumefantrine: a randomized, double-blind phase III trial in African children and adolescents with uncomplicated Plasmodium falciparum malaria. Premji Z PloS one 2009 PMID: 19690618
High risk of severe anaemia after chlorproguanil-dapsone+artesunate antimalarial treatment in patients with G6PD (A-) deficiency. Fanello CI PloS one 2008 PMID: 19112496
Rapid screening for glucose-6-phosphate dehydrogenase deficiency and haemoglobin polymorphisms in Africa by a simple high-throughput SSOP-ELISA method. Enevold A Malaria journal 2005 PMID: 16356170
Comparison of chlorproguanil-dapsone with sulfadoxine-pyrimethamine for the treatment of uncomplicated falciparum malaria in young African children: double-blind randomised controlled trial. Alloueche A Lancet (London, England) 2004 PMID: 15183620
Mild hemolysis in a girl with G6PD Sumaré (class I variant) associated with G6PD A-. Saad ST Blood cells, molecules & diseases 2003 PMID: 12737938
Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants. Hamel AR Blood cells, molecules & diseases 2002 PMID: 12367584
A single mutation 202G>A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself. Hirono A Blood 2002 PMID: 11852882
Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency. Gómez-Gallego F The Journal of biological chemistry 2000 PMID: 10734064
Population study of common glucose-6-phosphate dehydrogenase mutations in Kuwait. Samilchuk E Human heredity 1999 PMID: 9858856
Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene. Vulliamy T Human mutation 1996 PMID: 8956035
Molecular characterization of G6PD deficiency in Oman. Daar S Human heredity 1996 PMID: 8860013
Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean. Cappellini MD Blood 1996 PMID: 8611726
At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria. Nafa K Human genetics 1994 PMID: 7959686
G6PD deficiency. Beutler E Blood 1994 PMID: 7949118
The molecular basis of glucose-6-phosphate dehydrogenase deficiency. Vulliamy T Trends in genetics : TIG 1992 PMID: 1631957
Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype. Town M Human molecular genetics 1992 PMID: 1303173
Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization. Viglietto G Annals of human genetics 1990 PMID: 2321910
Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the Matera district. Calabrò V Human genetics 1990 PMID: 2253938
The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. Beutler E American journal of human genetics 1990 PMID: 1978554
Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP). Molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum. Vives-Corrons JL Human genetics 1989 PMID: 2912886
Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-. Beutler E Blood 1989 PMID: 2572288
G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation. Vulliamy TJ Nucleic acids research 1989 PMID: 2503817
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Vulliamy TJ Proceedings of the National Academy of Sciences of the United States of America 1988 PMID: 3393536
Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). Hirono A Proceedings of the National Academy of Sciences of the United States of America 1988 PMID: 2836867
A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+). Takizawa T Genomics 1987 PMID: 3446582
Heterogeneity of "Mediterranean type" glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain and description of two new variants associated with favism. Vives Corrons JL Human genetics 1982 PMID: 7106752
[Federal District glucose-6-phosphate dehydrogenase Gd(-). A new variant associated with moderate enzyme deficiency and occasional hemolytic anemia]. Lisker R Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion 1981 PMID: 7291768
A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia. Lisker R Human genetics 1978 PMID: 669721
A glucose 6-phosphate dehydrogenase Gd (-) Castilla variant characterized by mild deficiency associated with drug-induced hemolytic anemia. Lisker R The Journal of laboratory and clinical medicine 1977 PMID: 903703
Genetic variants of human erythrocyte glucose-6-phosphate dehydrogenase. Kinetic and thermodynamic parameters of variants A, B, and A- in relation to quaternary structure. Babalola AO The Journal of biological chemistry 1976 PMID: 5448
Studies of polymorphic traits for the characterization of populations. African populations south of the Sahara. Luzzatto L Israel journal of medical sciences 1973 PMID: 4359638
Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production. Yoshida A Journal of molecular biology 1970 PMID: 5492291
In vivo lability of glucose-6-phosphate dehydrogenase in GdA- and GdMediterranean deficiency. Piomelli S The Journal of clinical investigation 1968 PMID: 5641629
Negro variant of glucose-6-phosphate dehydrogenase deficiency (A-) in man. Yoshida A Science (New York, N.Y.) 1967 PMID: 6015571
Human glucose 6-phosphate dehydrogenase: purification and characterization of Negro type variant (A+) and comparison with normal enzyme (B+). Yoshida A Biochemical genetics 1967 PMID: 4388132
FUNCTIONALLY ABNORMAL GLUCOSE-6-PHOSPHATE DEHYDROGENASES. KIRKMAN HN Cold Spring Harbor symposia on quantitative biology 1964 PMID: 14278484
Beutler, E., Matsumoto, F. A new glucose 6-phosphate dehydrogenase variant: G6PD (-) Los Angeles. I.R.C.S. 5: 89, 1977. - - - - - - - - - - - -

Record last updated Oct 16, 2021