Mutation Details for c.3209G>A
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cDNA Name
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c.3209G>A
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Protein Name
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p.Arg1070Gln
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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R1070Q
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Other Details
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This missense mutation was found in one Italian CF patient. The nucleotide change was G->A at position 3341 of exon 17b leading to R 1070 Q amino acid change. It was found once using DGGE screening and DNA sequencing among 50 Italian CF chromosomes.
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Contributors
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Audrezet MP,
Mercier B,
Ferec C,
Novelli G,
Dallapicolla
1992-01-03
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Phenotype Information
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CFTR2
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Reference
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Mercier et al. 1993b
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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