Mutation Details for c.870-3T>G

cDNA Name c.870-3T>G 
Exon or Intron intron 7 
Legacy Exon or Intron intron 6b 
Legacy Name 1002-3T->G 
Other Details The 1002-3 T->G mutation was detected in a 38 year old male African-American CF patient. His other CF allele is the [delta]F508 mutation. The diagnosis of CF was established at the age of 18 years with sweat chloride concentraion of 112 mM. The patient is pancreatic insufficient and suffers from severe lung disease (FEV1 21% predicted). 
Contributors Mackova A, Macek MJr, Cutting GR   1994-10-18
Institute Center 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