Tolun Lab, Human Genetics Laboratory (Bogazici University)
General information
Tolun Lab, Human Genetics Laboratory
Bogazici University
Nispetiye cad. North campus Kpark building Lab:201
Istanbul
Turkey - 34342
http://boun.edu.tr
Organization ID: 506233
Bogazici University
Nispetiye cad. North campus Kpark building Lab:201
Istanbul
Turkey - 34342
http://boun.edu.tr
Organization ID: 506233
Personnel
- Esra Yildiz Bolukbasi, Lab Director
Phone: 00905396126030
Email: esrayldzbio@gmail.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 12
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Bardet-Biedl syndrome | 4 | Jul 14, 2017 |
Bardet-Biedl syndrome 14 | 1 | Jul 14, 2017 |
Bardet-biedl syndrome 21 | 1 | Jul 11, 2017 |
Brachydactyly | 1 | Aug 9, 2018 |
Chondrodysplasia | 1 | Aug 9, 2018 |
Congenital stationary night blindness 2A | 1 | Jul 12, 2017 |
Intellectual disability | 1 | Feb 15, 2018 |
McKusick-Kaufman syndrome | 1 | Jul 13, 2017 |
Nephronophthisis 4 | 1 | Jul 14, 2017 |
Syndromic intellectual disability | 1 | Jun 10, 2019 |
Synpolydactyly type 1 | 1 | Aug 9, 2018 |
X-linked cone-rod dystrophy 3 | 1 | Jul 12, 2017 |
clino-symphalangism | 1 | Aug 9, 2018 |
overriding digits | 1 | Aug 9, 2018 |