Mutation Details for c.1018delA

cDNA Name c.1018delA 
Protein Name p.Ile340SerfsX29 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1150delA 
Other Details The patient is a North American white female of European ancestry who is a compound heterozygote ([delta]F508/1150 del A). At the present age of 7, the patient has elevated sweat chlorides, is pancreatic insufficient, but currently has very mild lung disease. The mutation was identified at the Ohio State Molecular Pathology laboratory by heteroduplex analysis on an MDE gel, confirmed on both strands by direct PCR sequencing. WE have not observed this mutation on any other CF alleles. 
Contributors Prior T, Stein J, Highsmith E   1994-06-10
Institute Ohio State University Columbus, Ohio, USA 
Submitted Phenotype Details The CF patient has positive sweat chloride, mild lung disease and is PI. (pers. corr. Highsmith) 
Reference Prior et al. (NL#63) 

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