Mutation Details for c.-603_-601delAAG

cDNA Name c.-603_-601delAAG 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name -471delAGG 
Other Details The observation of a AGG deletion in a strech of (AGG) in the 5'-noncoding region of exon 1 occurs at nucleotide position -471 counted from the cap site (AATGACAT) as indicated by Riordan et al (1989) Science 245: 1066-1073 and Zielinski et al (1991) Genomics 10:214-228. -417delAGG was found in one normal individual and her mother (father). It was not found in 84 CF-chromosomes (22[delta]F and 62non[delta]F) and 28 non CF chromosomes. We have so far no indication that this mutation causes any kind of CF pathology. 
Contributors Grade K, Grunewald I, Hanke R, Coutelle C   1993-11-12
Institute Max-Delbruck-Centrum fur Molekulaire Medizin Berlin, Germany 
Submitted Phenotype Details  
Reference Grade et al. 1994 

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The Database was last updated at Apr 25, 2011