Dept of Medical Biology (Uskudar University), UU
General information
Dept of Medical Biology, UU
Uskudar University
Saray, Site Yolu Cd No:27 Kat:6 No:606 Umraniye
Istanbul
Turkey - 34768
https://uskudar.edu.tr/tip-fakultesi/en/
Organization ID: 508813
Uskudar University
Saray, Site Yolu Cd No:27 Kat:6 No:606 Umraniye
Istanbul
Turkey - 34768
https://uskudar.edu.tr/tip-fakultesi/en/
Organization ID: 508813
Personnel
- Burcu Turkgenc, Staff
Phone: 005052676640
Email: burcu.turkgenc@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 153
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AKAP9 | 14 | Jan 8, 2024 |
| ANK2 | 5 | Jan 8, 2024 |
| BAG3 | 3 | Jan 8, 2024 |
| CACNA1C | 3 | Jan 8, 2024 |
| CACNA1C-AS1 | 1 | Jan 8, 2024 |
| CACNA1S | 4 | Jan 8, 2024 |
| CACNA2D1 | 1 | Jan 8, 2024 |
| CACNB2 | 2 | Jan 8, 2024 |
| CALM2 | 2 | Jan 8, 2024 |
| CASQ2 | 2 | Jan 8, 2024 |
| CAV3 | 1 | Jan 8, 2024 |
| CTNNA3 | 1 | Jan 8, 2024 |
| DPP6 | 1 | Jan 8, 2024 |
| DSC2 | 2 | Jan 8, 2024 |
| DSG2 | 2 | Jan 8, 2024 |
| DSG2-AS1 | 1 | Jan 8, 2024 |
| DSP | 5 | Jan 8, 2024 |
| GH-LCR | 2 | Jan 8, 2024 |
| GNAI2 | 1 | Jan 8, 2024 |
| GPD1L | 2 | Jan 8, 2024 |
| HCN4 | 1 | Jan 8, 2024 |
| JUP | 2 | Jan 8, 2024 |
| KCNE1 | 1 | Jan 8, 2024 |
| KCNE2 | 1 | Jan 8, 2024 |
| KCNE3 | 2 | Jan 8, 2024 |
| KCNH2 | 6 | Jan 8, 2024 |
| KCNJ2 | 2 | Jan 8, 2024 |
| KCNJ8 | 1 | Jan 8, 2024 |
| KCNQ1 | 21 | Jan 8, 2024 |
| KCNQ1-AS1 | 2 | Jan 8, 2024 |
| LDB3 | 3 | Jan 8, 2024 |
| LMNA | 1 | Jan 8, 2024 |
| LOC101929305 | 1 | Jan 8, 2024 |
| LOC105372791 | 1 | Jan 8, 2024 |
| LOC110121269 | 1 | Jan 8, 2024 |
| LOC126805877 | 1 | Jan 8, 2024 |
| LOC126806067 | 1 | Jan 8, 2024 |
| LOC126807136 | 3 | Jan 8, 2024 |
| MYBPC3 | 4 | Jan 8, 2024 |
| MYH6 | 6 | Jan 8, 2024 |
| MYH7 | 3 | Jan 8, 2024 |
| MYL3 | 1 | Jan 8, 2024 |
| NKX2-5 | 1 | Jan 8, 2024 |
| NSUN6 | 1 | Jan 8, 2024 |
| OXTR | 1 | Jan 8, 2024 |
| PKP2 | 3 | Jan 8, 2024 |
| RBM20 | 3 | Jan 8, 2024 |
| RYR1 | 4 | Jan 8, 2024 |
| RYR2 | 8 | Jan 8, 2024 |
| SCN1B | 1 | Jan 8, 2024 |
| SCN3B | 1 | Jan 8, 2024 |
| SCN4A | 2 | Jan 8, 2024 |
| SCN5A | 4 | Jan 8, 2024 |
| SLMAP | 2 | Jan 8, 2024 |
| SNTA1 | 3 | Jan 8, 2024 |
| TCAP | 1 | Jan 8, 2024 |
| TGFB3 | 3 | Jan 8, 2024 |
| TMPO | 3 | Jan 8, 2024 |
| TNNI3 | 1 | Jan 8, 2024 |
| TRPM4 | 6 | Jan 8, 2024 |
| VCL | 1 | Jan 8, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Jervell and Lange-Nielsen syndrome | 2 | Jan 8, 2024 |
| Long QT syndrome | 149 | Jan 8, 2024 |
| Timothy syndrome | 2 | Jan 8, 2024 |