The CDC Hemophilia B mutation project mutation list: a new online resource
Article first published online: 19 AUG 2013
© 2013 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Molecular Genetics & Genomic Medicine
Volume 1, Issue 4, pages 238–245, November 2013
How to Cite
Li, T., Miller, C. H., Payne, A. B. and Craig Hooper, W. (2013), The CDC Hemophilia B mutation project mutation list: a new online resource. Molecular Genetics & Genomic Medicine, 1: 238–245. doi: 10.1002/mgg3.30
- Issue published online: 11 NOV 2013
- Article first published online: 19 AUG 2013
- Manuscript Accepted: 19 JUL 2013
- Manuscript Received: 21 MAY 2013
- CDC Foundation
- Pfizer Inc
- F9 gene;
- hemophilia B;
- mutation database.
Hemophilia B (HB) is caused by mutations in the human gene F9. The mutation type plays a pivotal role in genetic counseling and prediction of inhibitor development. To help the HB community understand the molecular etiology of HB, we have developed a listing of all F9 mutations that are reported to cause HB based on the literature and existing databases. The Centers for Disease Control and Prevention (CDC) Hemophilia B Mutation Project (CHBMP) mutation list is compiled in an easily accessible format of Microsoft Excel and contains 1083 unique mutations that are reported to cause HB. Each mutation is identified using Human Genome Variation Society (HGVS) nomenclature standards. The mutation types and the predicted changes in amino acids, if applicable, are also provided. Related information including the location of mutation, severity of HB, the presence of inhibitor, and original publication reference are listed as well. Therefore, our mutation list provides an easily accessible resource for genetic counselors and HB researchers to predict inhibitors. The CHBMP mutation list is freely accessible at http://www.cdc.gov/hemophiliamutations.