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cDNA Name
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c.3681A>G
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Protein Name
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p.Leu1227Leu
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Exon or Intron
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exon 22
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Other Details
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This variation does not alter the protein sequence and in silico analysis does not reveal any major changes in splicing elements, therefore considered to be a polymorphism
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Contributors and Institutes
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| Myrto Poulou | - | Department of Medical Genetics, Athens University | | Emmanuel Kanavakis | - | Department of Medical Genetics, Athens University | | Maria Tzetis | - | Department of Medical Genetics, Athens University |
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Submitted Phenotype Details
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This mutation was identified in a 4 months old girl referred for CFTR genotyping due to failure to thrive. Screening by DGGE and direct sequencing revealed the presence of two novel variants in trans (the other being p.Pro936Thr in exon 15).
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Reference
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