APRT Deficiency Research Program of the Rare Kidney Stone Consortium (Landspitali, National University Hospital of Iceland)
General information
Personnel
- Hrafnhildur Runolfsdottir, Staff
Phone: +354-6919717
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 61
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| APRT | 61 | Nov 13, 2020 |
| LOC130059760 | 5 | Nov 13, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Adenine phosphoribosyltransferase deficiency | 61 | Nov 13, 2020 |