Mutation Details for c.442delA
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cDNA Name
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c.442delA
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Protein Name
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p.Ile148LeufsX5
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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574delA
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Other Details
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This mutation is not found in 45 other non-[delta]F CF chromosomes and 16 normal chromosomes tested. The patient has [delta]F508 on the other chromosome, a severe pancreatic deficiency and lung disease and was diagnosed by MI.
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Contributors
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Goossens M
1990-11-28
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Institute
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Institut National de la Sante et de la Recherche Medicale
Creteil, France
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Phenotype Information
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CFTR2
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Reference
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Goossens 1992 (NL #29)
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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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