Mutation Details for c.200C>T
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cDNA Name
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c.200C>T
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Protein Name
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p.Pro67Leu
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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P67L
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Other Details
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P67L mutation was seen on one Caucasian CF chromosome of 48 screened. It was not detected on any of 181 non-CF Caucasian chromosomes by ASO analysis. The patient, a 15 year old female, carries [delta]F508 on the other allele. She was diagnosed at the age of 12. She is pancreatic sufficient with sweat chloride concentrations of 54 and 67 meq/L.
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Contributors
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Hamosh A,
Kiesewetter S,
Macek MJr,
Davis C,
Cutting GR
1993-08-17
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Institute
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Johns Hopkins Hospital
Baltimore, MD, USA
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Phenotype Information
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CFTR2
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Reference
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Hamosh et al. (NL#54)
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