Mutation Details for c.837A>T
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cDNA Name
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c.837A>T
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Protein Name
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p.Glu279Asp
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Exon or Intron
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exon 7
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Legacy Exon or Intron
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exon 6b
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E279D
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Other Details
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The mutation was detected by DGGE and DHPLC and identified by direct sequencing.
We have seen it only twice, in over 1000 non-[delta]F508 chromosomes screened.
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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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The change was found in the asymptomatic husband of a CF carrier.
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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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