Mutation Details for c.713C>T
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cDNA Name
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c.713C>T
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Protein Name
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p.Ala238Val
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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A238V
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Other Details
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A new mutation was found (by DHPLC, then both strands DNA have been sequenced) in a CBAVD patient from Southern Italy.
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-06
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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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Patient (M) 35Y, has CBAVD, DeltaF508 was found on the other allele , (have poli T 5 in cis with TG 12).
They are PI, with moderate/mild lung disease, with sweat chloride 60 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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