Mutation Details for c.3106delA
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cDNA Name
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c.3106delA
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Protein Name
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p.Thr1036LeufsX?
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3238delA
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Other Details
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This mutation was found in a Czech patient with the classical form of CF. The other mutation in trans is the large intragenic deletion dele2-3.
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Contributors
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Marie-Pierre Audrezet, Milan Macek Jr., Vera Vavrova, Dana Zemkova, Andrea Holubova, Claude Ferec
2005-07-13
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Institute
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ETSBO-Brest, France and Charles University Prague -
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Submitted Phenotype Details
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The female patient was diagnosed at the age of 4 months with mean sweat chloride concentrations of 77 mmol/L. She is pancreatic insufficient, has normal lung functions, CFLD is absent and is colonized by S. Aureus and H. influenze. Chest X-ray shows typical bronchiectases and atelectases.
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Reference
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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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