Mutation Details for c.987delA

cDNA Name c.987delA 
Protein Name p.Gly330GlufsX39 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1119delA 
Other Details The 1119 del A mutation was detected in a 5 year old male African-American CF patient. This mutation is compounded with the [delta]F508 mutation. The patient was diagnosed at the age of two months with sweat chloride concentration of 73mM. He is pancreatic insufficient with moderate lung disease (FEV1 73% predicted). 
Contributors Mackova A, Macek MJr, Cutting GR   1994-10-18
Institute Cneter for Medical Genetics Baltimore, MD, USA 
Submitted Phenotype Details  
Reference Mackova et al. (NL#64) 

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The Database was last updated at Apr 25, 2011