Mutation Details for c.3014T>G
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cDNA Name
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c.3014T>G
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Protein Name
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p.Ile1005Arg
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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I1005R
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Other Details
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This was identified in three independent German patients with mild pancreatic dysfunction but severe pulmonary disease. The mutation is associated with haplotype A.
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Contributors
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Dork T,
Tummler B
1992-08-11
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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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One patient (male, 5) was diagnosed with CF at birth. He is PI, has severe pulmonary disease (FEV1 26%).He carries DelF508 on the other allele.
(pers. corr. Doerk)
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Reference
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Dörk et al. 1994b
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