rs773798398

This variant is located in the TCN2 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Transcobalamin II deficiency

About TCN2

This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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