|(A;A)||1.6||mannose binding deficiency but of low clinical importance|
|(A;G)||1.1||carrier of mannose binding deficiency but of low clinical importance|
|(G;G)||0||common in clinvar|
|Disease||Mannose-binding protein deficiency|
|CLNDBN||Mannose-binding protein deficiency|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
[PMID 16385451] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 18396467] Genetic variation and haplotype structures of innate immunity genes in eastern India.
[PMID 18452612] MBL2 and hepatitis C virus infection among injection drug users.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19139195] Genetic polymorphisms of mannose-binding lectin do not influence placental malaria but are associated with preterm deliveries.
[PMID 19366862] Elevated MBL concentrations are not an indication of association between the MBL2 gene and type 1 diabetes or diabetic nephropathy.
[PMID 19432958] Haplotype specific-sequencing reveals MBL2 association with asymptomatic Plasmodium falciparum infection.
[PMID 20041166] Common genetic variation and the control of HIV-1 in humans.
[PMID 20042521] Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome.
[PMID 20196868] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
[PMID 20465856] Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes.
[PMID 21211797] Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin.
[PMID 22035380] Mannose-binding lectin and MBL-associated serine protease-2 gene polymorphisms in a Brazilian population from Rio de Janeiro.
[PMID 22417159] DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.
|qualified_impact||Insufficiently evaluated pathogenic|
|summary||This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. The wild-type version of this gene is known as variant allele A, while this is called variant allele C. See R52C (variant D) and G54D (variant B).|
[PMID 22848725] Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway.