Mutation Details for c.2936A>T
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cDNA Name
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c.2936A>T
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Protein Name
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p.Asp979Val
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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D979V
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Other Details
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The above mutation was detected by DGGE and direct sequencing, and was observed in a
French family with 2 CF patients carrying [delta]F508 on their other CF chromosomes.
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Contributors
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Feldmann D,
Cougoureux,
Magnier C,
Larose F,
Aymard P
1996-05-03
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Institute
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Laboratoire de Biochimie,
Hopital Trousseau,
Paris, France
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Submitted Phenotype Details
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One patient (male, 11y) diagnosed at 4 y,sweat chloride 88-97, carrying delF508 on the other allele. (pers.corr. Feldmann)
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Reference
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Feldmann et al. (NL#68)
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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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