Mutation Details for c.1083delG
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cDNA Name
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c.1083delG
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Protein Name
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p.Trp361CysfsX8
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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1215delG
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Other Details
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Contributors
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Romey et al 1994
1994-01-01
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Institute
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Laboratoire de Biochimie Genetique Montpellier, France
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Submitted Phenotype Details
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The mutation was found in a 11 years old male patient diagnosed at 7 years of age, carrying 2423delG on the other allele. He is PI, has pulmonary disease, and sweat chloride 106-120mmol/l. (pers. corr. Claustres and Romey et al. 1996)
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Reference
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Romey et al. 1994b
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