Mutation Details for c.3299A>C
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cDNA Name
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c.3299A>C
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Protein Name
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p.Gln1100Pro
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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Q1100P
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Other Details
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The mutation was found in one spanish CF chromosome among 98 non-[delta]F508 analyzed. The patient a 23 year old man carrying the [delta]F508 on the other chromosome. He was diagnosed by the age of 3 and is now PI and has colonization with Pseudomonas aeurginosa. The mutation has been identified by DGGE and direct sequencing.
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Contributors
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Ferec C,
Audrezt MP<
Mercier B,
Nunes V,
Palacio A,
Estivill X
1993-05-17
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Institute
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Institut de Recerca Oncologica
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Submitted Phenotype Details
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One CF patient (20, male) diagnosed at 3 yrs,no meonium ileus, PI, sweat chloride of 110 mmol/l, lung disease with Pseudomonas lung colonization.
(pers. corr. Nunes)
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Reference
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Nunes et al. (NL#55)
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