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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
Madsen HO, Garred P, Kurtzhals JA, Lamm LU, Ryder LP, Thiel S, Svejgaard A. A
new frequent allele is the missing link in the structural polymorphism of the
human mannan-binding protein. Immunogenetics. 1994;40(1):37-44. PubMed PMID:
Deleted in this revision:
hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr10:54531242