Mutation Details for c.2875delG

cDNA Name c.2875delG 
Protein Name p.Ala959HisfsX9 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 3007delG 
Other Details A deletion of G was identified at position 3007 in exon 15 (haplotype A). The second chromosome carries a [delta]F508. The patient is of French origin, PI, with a severe form. 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Raguenes O, Guillermit H, Mercier B   1993-02-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Phenotype Information CFTR2
Reference Mercier et al. 1994 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011