Mutation Details for c.4003C>T
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cDNA Name
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c.4003C>T
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Protein Name
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p.Leu1335Phe
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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L1335F
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Other Details
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We have scanned the entire coding sequences of the CF gene with DHPLC and have seen it only once, in over 2500 control chromosomes from Italian population.
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-18
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Institute
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Lab. Genetica Molecolare Dip Pediatria, Padova,Italy
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Submitted Phenotype Details
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The patient (M, 5y) has borderline sweat test, no others clinical data available, his father is CBAVD with G542X mutation.
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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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