Mutation Details for c.2731A>C
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cDNA Name
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c.2731A>C
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Protein Name
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p.Ser911Arg
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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S911R
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Other Details
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Contributors
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Seia M., Padoan R.
2002-01-01
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Institute
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Lab. Genetica Molecolare, Centro Fibrosi Cistica, ICP e Università degli Studi, Italy
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Submitted Phenotype Details
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The mutation was found in a 59 years old female diagnosed at 57 with severe lung disease (bronchiectasis and Pseudomonas aeruginosa). Her sweat chloride was 88 mmol/l She carries deltaF508 on the other allele. The pancreatic status (sufficient/nonsufficient) is unknown. (pers.corr. Padoan)
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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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