Mutation Details for c.3929G>A
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cDNA Name
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c.3929G>A
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Protein Name
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p.Trp1310X
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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W1310X
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Other Details
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Contributors
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Cassiman JJ,
Cuppens H,
Marynen
1992-03-03
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Institute
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Center for Human Genetics
Leuven, Belgium
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Submitted Phenotype Details
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The 16-year old female patient is from Turkish descent. She was diagnosed at 1 month of age.She is PI, has mild pulmonary symptoms (FEV1 86%), sweat chloride 122.62 mmol/l and carries 2183AA>G on the other allele. (pers. corr. De Boeck)
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Reference
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Cuppens et al. 1993
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