Mutation Details for c.4439T>C
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cDNA Name
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c.4439T>C
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Protein Name
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p.Leu1480Pro
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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L1480P
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Other Details
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The mutation was detected by DGGE analysis and characterized by direct sequencing.
We have seen it only twice, in over 2000 control chromosomes from Italian population.
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-11
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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 mutation was identified in suspect CF Italian patient (male, 40y). The patient had borderline sweat test with recurrent pancreatitis. He carries R553X on the other allele.
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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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