Welcome to the open-access database on CHD7 mutations.

The CHD7 mutation database contains anonymised data on both published and unpublished CHD7 variations and phenotype. The CHD7 mutation database will be regularly updated with data from new publications and unpublished data. Updates will be announced in the News field on the homepage and in the News archives. Currently, the database is being improved with additional functionalities, which might not work yet.

The database currently contains 554 pathogenic mutations in 895 patients, 93 unclassified variants in 98 patients, and 102 benign variants. Published data are available for 709 patients. Data from 364 patients are unpublished.

If you wish to have your data added please follow the instructions found here

You can search by typing any search term in the search field, like cDNA (e.g. '160delC', '232C>T') or protein (e.g. 'Lys643fs', 'Arg2024X') notations of mutations, or specific phenotypes (e.g. 'coloboma').

Available datasets:

Collaborators and supporters