Mutation Details for c.1063C>T
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cDNA Name
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c.1063C>T
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Protein Name
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p.Pro355Ser
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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P355S
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Other Details
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The mutation was detected by DGGE analysis and characterised by direct sequencing.
We 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.
2006-07-05
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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 found in a North-Est Italian (female 3y) carrying 1717-1 G->A on the other allele, no lung disease, sweat chloride 47 mmol/l .
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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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