Mutation Details for c.2591_2592delTT
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cDNA Name
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c.2591_2592delTT
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Protein Name
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p.Ile864MetfsX31
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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2723delTT
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Other Details
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The mutation was found once in a patient of Serbian origin.
Patient data: Genotype: [delta]F508/2723delTT
Age at diagnosis: since birth
Current age: 9 months
Chloride sweat test: 100-113mmol/L
The patient is PI since 6th month of age, with chronic cough.
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Contributors
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Antoniadi T,
Tzetis M,
Kanavakis E
1996-12-12
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Institute
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Athens University, First Dept of Pediatrics
Unit of Molecular Medicine
St. Sophias Children Hospital
Athens, Greece
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Submitted Phenotype Details
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The mutation was found in a 9 months old male CF patient, diagnosed at 4 months of age. He is PI, has severe pulmonary symptoms with pneumonia and areas of atelectasis and sweat chloride 88 mmol/l. (pers. corr. Tzetis)
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Reference
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Antoniadi et al. (NL#69)
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