Mutation Details for c.357delC
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cDNA Name
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c.357delC
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Protein Name
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p.Ile119MetfsX5
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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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489delC
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Other Details
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A premature stop codon appears four codons further.
The parents are first cousins and originate from Mauritania (Africa).
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Contributors
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E. Girodon, F. Niel, V. Pingault, M. Goossens
2004-10-06
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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This mutation was identified at the homozygous state in a 6 yrs old girl having a classical form of CF. Sweat chloride value: 92 mEq/l.
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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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