Mutation Details for c.3971T>C
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cDNA Name
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c.3971T>C
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Protein Name
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p.Leu1324Pro
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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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L1324P
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Other Details
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The patient is from Madagascar.
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Contributors
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E. Girodon, F. Niel, C. Costa, M. Goossens
2004-01-21
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Institute
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Biochimie-GŽnŽtique, h™pital Henri-Mondor, CrŽteil, France
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Submitted Phenotype Details
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This mutation was identified in trans with N1303K in a 26 yrs old male known as a CF patient since early childhood because of a family history (a CF brother). His phenotype was moderate with episodes of bronchitis but worsened since youth, with broncho-pulmonary infections and diabetis. He appears to be fertile.
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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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