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

Details

• Alternative Title:
  Mol Genet Genomic Med
• Personal Author:
  Li, Tengguo ; Miller, Connie H ; Payne, Amanda B ; Craig Hooper, W
• 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 http://www.cdc.gov/hemophiliamutations.
• Subjects:
  Databases, Genetic Factor IX Genetic Loci Genome, Human Genotype Hemophilia B/genetics Humans Internet Mutation
• Source:
  Mol Genet Genomic Med. 2013; 1(4):238-245.
• Document Type:
  Journal Article
• Name as Subject:
  Centers for Disease Control and Prevention (U.S.)
• Place as Subject:
  United States
• Volume:
  1
• Issue:
  4
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:0101d97942644ba74430e201366188ca0428724b2b98fe753d4878a782d27b24
• Download URL:
  https://stacks.cdc.gov/view/cdc/21892/cdc_21892_DS1.pdf
• File Type:
  [PDF - 1.28 MB ]