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RBKS

Synonyms
RBSK, RK
External resources
Summary
This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants.

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
2,737
Likely benign
107
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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