The CDC Hemophilia B mutation project mutation list: a new online resource
Advanced Search
Select up to three search categories and corresponding keywords using the fields to the right. Refer to the Help section for more detailed instructions.
Clear All

The CDC Hemophilia B mutation project mutation list: a new online resource

Filetype[PDF-1.28 MB]


  • Alternative Title:
    Mol Genet Genomic Med
  • Description:
    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
  • Source:
    Mol Genet Genomic Med. 2013; 1(4):238-245.
  • Document Type:
  • Collection(s):
  • Main Document Checksum:
  • File Type:

You May Also Like

Checkout today's featured content at