Mutation Details for c.1611C>A
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cDNA Name
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c.1611C>A
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Protein Name
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p.Asp537Glu
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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D537E
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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 34 years old male with CBAVD, who is PS, has no lung disease and Sweat Chloride was 24 mmol/l. He carries R117H-7T on the other allele. (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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