Mutation Details for c.1744A>T
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cDNA Name
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c.1744A>T
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Protein Name
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p.Thr582Ser
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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T582S
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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 2 patients, both males, carrying unknown other mutation, both PS, with mild or no lung disease and sweat chloride less then 60 mmol/l. One was 40, diagnosed with bronchiectasis and the other was 20, diagnosed with CBAVD. (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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