Mutation Details for c.4140delA
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cDNA Name
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c.4140delA
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Protein Name
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p.Tyr1381ThrfsX3
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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4272delA
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Other Details
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This mutation was identified on one Algerian CF chromosome
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Contributors
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LOUMI O , Ferec C, Creff J, Audrezet M-P.
2005-01-10
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Institute
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Centre Departemental de Transfusion Sanguine , faculte des sciences biologiques , USTHB .
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Submitted Phenotype Details
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The individual boy was admitted at the hospital of Algeria for pulmonary insufficiency .His sweat chloride is 76 meq/l and he has no other mutation identified.
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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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