Mutation Details for c.-603_-601delAAG
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cDNA Name
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c.-603_-601delAAG
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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-471delAGG
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Other Details
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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.
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Contributors
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Grade K,
Grunewald I,
Hanke R,
Coutelle C
1993-11-12
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Institute
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Max-Delbruck-Centrum fur Molekulaire Medizin
Berlin, Germany
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Submitted Phenotype Details
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Reference
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Grade et al. 1994
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