rs2505813545

This variant is located in the MPI gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

MPI-congenital disorder of glycosylation

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About MPI

Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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