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GART

Synonyms
AIRS, GARS, GARTF, PAIS, PGFT, PRGS
External resources
Summary
The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms.

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
27,671
Likely benign
10,055
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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