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The CHD7 mutation database contains anonymised data on both published and unpublished CHD7 variations and phenotype. The CHD7 mutation database will be regularly updated with data from new publications and unpublished data.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
- Cohort type
Case only
- 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The database contains published and unpublished variants.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..
- Collection type
Retrospective
- Start/End year
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
Contributors
- prof. dr. CMA (Conny) Van Ravenswaaij-Artsc.m.a.van.ravenswaaij@umcg.nl
Available Data & Samples
Data categories
- Medical records
Subpopulations
List of subcohorts or 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 |
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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