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This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. See G57E.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Added in this revision:
Garred P, Madsen HO, Hofmann B, Svejgaard A. Increased frequency of
homozygosity of abnormal mannan-binding-protein alleles in patients with
suspected immunodeficiency. Lancet. 1995 Oct 7;346(8980):941-3. PubMed PMID:
hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr10:54531242