CFTR-France (University and hospital of Montpellier)
General information
CFTR-France
University and hospital of Montpellier
640 Av. du doyen Gaston Giraud
Montpellier
France - 34095
https://cftr.iurc.montp.inserm.fr/cftr/
Organization ID: 507119
University and hospital of Montpellier
640 Av. du doyen Gaston Giraud
Montpellier
France - 34095
https://cftr.iurc.montp.inserm.fr/cftr/
Organization ID: 507119
Personnel
- Corinne BAREIL, Administrator
Phone: +33411759874
Email: corinne.bareil@inserm.fr - Mireille CLAUSTRES, Medical Director
Phone: +33411759879
Email: mireille.claustres@inserm.fr - Caroline RAYNAL, Coordinator
Phone: +33411759864
Email: caroline.raynal@inserm.fr - Souphatta SASORITH, Administrator
Phone: +33411759864
Email: souphatta.sasorith@ext.inserm.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 516
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CFTR | 516 | Feb 6, 2024 |
| CFTR-AS1 | 44 | Sep 9, 2022 |
| LOC111674463 | 3 | Sep 16, 2019 |
| LOC111674472 | 54 | Sep 9, 2022 |
| LOC111674475 | 18 | Feb 6, 2024 |
| LOC111674477 | 8 | Sep 16, 2019 |
| LOC113633877 | 1 | Sep 16, 2019 |
| LOC113664106 | 12 | Sep 9, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| CFTR-related disorders | 125 | Feb 6, 2024 |
| Cystic fibrosis | 474 | Sep 9, 2022 |