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GMPR2

Synonyms
GMPR 2
External resources
Summary
This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. 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
4,822
Likely benign
36
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GMPR2 gene.

Phenotype class
Patients in 3billion (%)

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