Mutation Details for c.3712C>T

cDNA Name c.3712C>T 
Protein Name p.Gln1238X 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name Q1238X 
Other Details This mutation was found in one CF patient of French origin. It destroys a HaeIII restriction site and could be screened by enzyme digestion. The affected child is carrying a G 542 X on the other chromosome and is pancreatic insufficient with a severe form of the disease.  
Contributors Audrezet MP, Guillermit H, Quere I, Verlingue C, Ferec C   1992-03-03
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient(female, 27y) diagnosed at birth. She is PI, has moderate lung disease and sweat chloride of 102 mmol/l. Unknown other mutation. (pers.corr. Ferec) 
Reference Audr├ęzet et al. 1993a 

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