Mutation Details for c.2743G>C
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cDNA Name
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c.2743G>C
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Protein Name
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p.Val915Leu
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Exon or Intron
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exon 17
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Other Details
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No second mutation detected after sequencing of all CFTR-exons
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Contributors and Institutes
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| Wagner Klaus | - | Medical University Graz, Institute of Human Genetics |
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Submitted Phenotype Details
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The male patient was born 2008, parents are not available for analysis. Meconium illeus, recurrent infections, long-term parenteral nutrition. Sweat test was not performed
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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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