CHD7
CHD7.org...
Description
The CHD7 mutation database contains anonymised data on both published and unpublished CHD7 variations and phenotype. The CHD7 mutation database will be regularly updated with data from new publications and unpublished data. The database currently co...
General Design
- Type
- Cohort study
- Cohort type
- Case only
- Data collection type
- Retrospective
- Design
- Cross-sectional
- Design description
- The database contains published and unpublished variants. Mutations are numbered according to GenBank Accession no. NM017780.2. Mutation nomenclature according to HGVS recommendations. Molgenis software is used..
- Start/End data collection
- 2010 (ongoing)
- Design papers
- PID
- https://doi.org/10.34760/65265e2c7c59b
Population
- Number of participants
- 895
- Number of participants with samples
- 0
- Population age groups
- All ages
- Main medical condition
- ORPHAcodes
- CHARGE syndrome
Organisations
Lead organisations
- University Medical Centre Groningen (UMCG)Netherlands (the)https://www.umcg.nl/
Contributors
- prof. dr. CMA (Conny) Van Ravenswaaij-ArtsUniversity Medical Centre Groningenc.m.a.van.ravenswaaij@umcg.nl
Principal Investigator
Available Data & Samples
Data categories
Medical records
Subpopulations
List of subpopulations for this resource...
| Name | Description | Number of participants |
|---|
Collection events
List of collection events defined for this resource...
| Name | Description | Participants | Start end year |
|---|
Publications
Access conditions
the database isonline open access. When using the data please cite "chd7.org" and Janssen et al (2012)...
- Data access conditions
- general research use
- Data access fee
- true
- Release type
- Periodically