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cDNA Name
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c.3825T>C
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Protein Name
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p.Asp1275Asp
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Exon or Intron
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exon 23
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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 5years old child referred for CFTR genotyping due to malabsorption syndrome. Screening by DGGE and direct sequencing revealed the presence of this novel variant. Sweat chloride levels were measured at 50meq/L
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Reference
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