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OARD1

Synonyms
C6orf130, TARG1, dJ34B21.3
External resources
Summary
The protein encoded by this gene is a deacylase that can convert O-acetyl-ADP-ribose to ADP-ribose and acetate, O-propionyl-ADP-ribose to ADP-ribose and propionate, and O-butyryl-ADP-ribose to ADP-ribose and butyrate. The ADP-ribose product is able to inhibit these reactions through a competitive feedback loop.

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
6,371
Likely benign
843
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on OARD1 gene.

Phenotype class
Patients in 3billion (%)

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