Mutation Details for c.2619+2T>A
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cDNA Name
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c.2619+2T>A
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Exon or Intron
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intron 15
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Legacy Exon or Intron
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intron 14a
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2751+2T->A
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Other Details
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The above mutation was found in a 14 month old patient with sweat chloride of 85.7 mEq/L, PI since birth, chronic cough, S-K: 90, and CRX: 22. It was found once among 500 chromosomes screened. The other mutant allele in this patient was [delta]F508.
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Contributors
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Antoniadi Th,
Tzetis M,
Kanavakis E
1996-03-07
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Institute
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First Department of Pediatrics,
Athens University, Greece
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Submitted Phenotype Details
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The mutation was found in a 5 years old male CF patient diagnosed at birth with meconium ileus. He has severe lung disease with Pseudomonas Aeruginosa and Staph. Aureus infections, is PI and has sweat chloride 85.7 mmol/l.(Tzetis et al. 2001)
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Reference
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Antoniadi et al. (NL#68)
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