Mutation Details for c.4036_4042del
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cDNA Name
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c.4036_4042del
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Protein Name
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p.Leu1346MetfsX6
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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4168delCTAAGCC
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Other Details
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Contributors
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F.Torricelli, C.Centrone, E.Pelo, T. Repetto, G.Taccetti
2005-10-25
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Institute
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SOD Genetica AOU CAREGGI ?Cystic Fibrosis Center AOU Meyer Florence Italy
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Submitted Phenotype Details
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male CF patient , italian origin,23 years old, diagnosed at 23 months. He has PI, lung disease with Pseudomonas chronic infection, ABPA; sweat test CL 117 mEq/L
Glucose intollerance
UNK on the other allele
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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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