Accession number: M82814
Gene: NF1
Chromosome: 17

Link to the Reference Paper. The accession number of this mRNA is M82814 .

The following files contain the results of information analyses of mutations confirmed or predicted to result in mRNA splicing mutations in NF1.

These include potential cryptic splice sites.

• Donor sites found that alter the information content of donor sites.

• Acceptor sites found that alter the information content of acceptor sites.
  

• Unparsable  Inconsistencies between the described mutation and the human genome reference sequence, "presently not posted".
  

• Total  sites found that alter the information ocontent of both acceptor and donor sites are listed according to the mutation.

• Original Original Mutation Table.

 172 WITSCH-BAUMGARTNER ET AL. HUMAN MUTATION 17:172?182 (2001)

 MUTATION UPDATE

 Mutations in the Human DHCR7 Gene

 Martina Witsch-Baumgartner, Judith Löffler, and Gerd Utermann*

 Institute of Medical Biology and Human Genetics, University of Innsbruck, Innsbruck, Austria

 

 

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