Mutation Details for c.2929T>C
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cDNA Name
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c.2929T>C
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Protein Name
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p.Ser977Pro
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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S977P
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Other Details
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This missense mutation was identified in a German CF patient who is also heterozygous for [delta]F508. The 12 year old boy is PI but so far not affected by CF typical opportunistic pathogens.
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Contributors
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Dork T,
Bosshammer J,
Tummler B
1992-11-23
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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, 11) was diagnosed at 4 months old, with Cf, is PI, has severe lung disease (FEV1 36%). He carries DelF508 on the other allele.
(pers.corr. Doerk)
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Reference
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Dörk et al. (NL#51)
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