Department of Medical Sciences (Uppsala University)
General information
Department of Medical Sciences
Uppsala University
Uppsala
Sweden - 75185
http://www.medsci.uu.se/
Organization ID: 506194
Uppsala University
Uppsala
Sweden - 75185
http://www.medsci.uu.se/
Organization ID: 506194
Personnel
- Kristofer Andersson, Administrator
Phone: +46852488039
Email: [email protected] - Andreas Kindmark, Principal Investigator
Phone: 46186119297
Email: [email protected] - Katarina Lindahl, Administrator
Phone: +46186113960
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 102
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| COL1A1 | 76 | Apr 22, 2017 |
| COL1A2 | 25 | Apr 22, 2017 |
| LOC126862586 | 4 | Apr 22, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Osteogenesis imperfecta type I | 65 | Apr 22, 2017 |
| Osteogenesis imperfecta type III | 16 | Apr 22, 2017 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 21 | Apr 22, 2017 |