Mutation Details for c.4143C>A
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cDNA Name
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c.4143C>A
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Protein Name
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p.Tyr1381X
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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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Y1381X
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Other Details
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This change has been detected by DGGE analysis and direct sequencing
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Contributors
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T. Casals, MD: Ramos, J. Gimenez, R. Cabanas
2002-01-01
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Institute
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CGMM-IRO, Barcelona, Spain Hospital U. Santiago S. Compostela, Spain
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Submitted Phenotype Details
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The patient (male, 2y 9m) was diagnosed at 15m, PI, sweat test over 100 mMol/L and St. aureus lung colonisation. He was found homozygous for the Y1381X mutation.
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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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