Mutation Details for c.1703T>A
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cDNA Name
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c.1703T>A
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Protein Name
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p.Leu568X
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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L568X
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Other Details
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The L568X mutation has been observed in a 9 month old Vietnamese patient who presented with bronchiolitis and pneumonia. His sweat chloride concentrations were repeatedly above 90 mM. No other clinical information is available to us. The patient also carries the [delta]F508 mutation.
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Contributors
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Macek MJr,
Davis CL,
Hamosh A,
Cutting GR
1993-08-04
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Institute
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Center for Medical Genetics
Baltimore, MD, USA
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Submitted Phenotype Details
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One patient (male,2y) was diagnosed at 3 mths. He is PI, has moderate lung disease (bronchiolitis, pneumonia) and a sweat chloride of 109 mmol/l. He carries DelF508 on the other allele.
(Macek et all 1997 and pers. corr. Macek)
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Reference
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Macek et al. (NL#58)
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