Mutation Details for c.4242+1G>T
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cDNA Name
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c.4242+1G>T
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Exon or Intron
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intron 26
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Legacy Exon or Intron
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intron 23
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4374+1G->T
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Other Details
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null
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Contributors
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Dork T,
Kalin N,
Tummler B
1991-09-20
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Institute
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Medizinische Hochschule Hannover
Hannova, Germany
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Submitted Phenotype Details
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The patient (male, 17y) was diagnosed at 3.2 years with CF. He is PI, has mild lung disease (FEV1 94%) and sweat chloride 85-100 mmol/l.
He carries DeltaF508 on the other allele.
(pers.corr. Doerk)
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Reference
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Dörk et al. (NL #38)
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