CHD7 | UMCG Data catalogue Accept

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The CHD7 mutation database contains anonymised data on both published and unpublished CHD7 variations and phenotype. The CHD7 mutation database will be regularly updated with data from new publications and unpublished data.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

The CHD7 mutation database contains anonymised data on both published and unpublished CHD7 variations and phenotype. The CHD7 mutation database will be regularly updated with data from new publications and unpublished data.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Design description: The database contains published and unpublished variants.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..
Keywords: CHD7; CHARGE syndrome; Hypogonadotropic hypogonadism; locus-specific mutation database
Date established: 2010-01-01
Start/End data collection: 2010-01-01 (ongoing)
Design papers: A Novel Classification System to Predict the Pathogenic Effects of CHD7 Missense Variants in CHARGE Syndrome
Mutation Update on the CHD7 Gene Involved in CHARGE Syndrome
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 organisation
University Medical Centre Groningen (UMCG)https://www.umcg.nl/
Netherlands (the)

Contributors

prof. dr. CMA (Conny) Van Ravenswaaij-Artsc.m.a.van.ravenswaaij@umcg.nl
PI

Variables & Topics

Explantation about variables and the functionality seen here.

Explantation about variables and the functionality seen here....

Variables per topic

Available Data & Samples

Data categories

Medical records

Subpopulations

List of subpopulations for this resource

List of subpopulations for this resource...

Name	Description	Number of participants

Collection events

List of collection events defined for this resource

List of collection events defined for this resource...

Name	Description	Participants	Start end year

Networks

Part of networks

Part of networks...

Publications

A Novel Classification System to Predict the Pathogenic Effects of CHD7 Missense Variants in CHARGE Syndrome

Mutation Update on the CHD7 Gene Involved in CHARGE Syndrome

Access conditions

the database isonline open access. When using the data please cite "chd7.org" and Janssen et al (2012)

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