Mutation Details for c.4241T>C
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cDNA Name
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c.4241T>C
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Protein Name
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p.Leu1414Ser
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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L1414S
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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 once, in over 1700 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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L1414S was found in a 40y old male with CBAVD, poli T 7-9 and carrying deltaF508 on the other allele. The patient and has chronic pancreatitis.
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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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