rs747172916

This variant is located in the TCN1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter1 publication

Transcobalamin I deficiency

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About TCN1

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 protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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