rs758600283

This variant is located in the UPP1 gene.

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ClinVar annotation

Likely Benign
1 submitter1 publication

Long QT syndrome

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About UPP1

This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016]

View all UPP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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