rs111558802

This variant is located in the CD320 gene.

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ClinVar annotation

Benign★☆☆☆

1 submitter

About CD320

This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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