Mutation Details for c.1036C>T
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cDNA Name
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c.1036C>T
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Protein Name
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p.Leu346Leu
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Exon or Intron
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exon 8
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Other Details
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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 change has been identified through DGGE and direct sequencing, while screening a 7years old girl presenting with amylasemia and acute pancreatitis episodes. No other change was identified in the CFTR gene after screening exons 3,4,10,11,12,13,14b,15,16,17b,19,20,21 and 23
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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