rs760332285

This variant is located in the MBL2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

2 submitters

Mannose-binding lectin deficiency; MBL2-related disorder

About MBL2

This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes and binds to mannose and N-acetylglucosamine on many microorganisms, including bacteria, yeast, and viruses including influenza virus, HIV and SARS-CoV. This binding activates the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jun 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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