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UCK2

Synonyms
TSA903, UK, UMPK
External resources
Summary
This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
885
Likely benign
202
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on UCK2 gene.

Phenotype class
Patients in 3billion (%)

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