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G6PD A-

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Mar 31, 2000
Accession:
VCV000010361.1
Variation ID:
10361
Description:
Haplotype
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G6PD A-

Other names
G6PD Matera
G6PD, VAL68MET, ASN126ASP
G6PD Betica
G6PD Castilla
G6PD Distrito Federal
G6PD Tepic
Functional consequence
-
Links
ClinGen: CA033016
OMIM: 305900.0002
This haplotype includes the following variants
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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
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
G6PD - - GRCh38
GRCh37
222 461

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 31, 2000)
no assertion criteria provided
Method: literature only
G6PD A-
Allele origin: germline
OMIM
Accession: SCV000031301.9
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (16)
Beutler, E., Matsumoto, F. A new  (more...)

Functional evidence

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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

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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. - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=G6PD - - - -
https://www.pharmgkb.org/clinicalAnnotation/981352141 - - - -

Record last updated Oct 16, 2021