Mutation Details for c.343_345del
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cDNA Name
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c.343_345del
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Protein Name
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p.Glu115del
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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[delta]E115
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Other Details
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A new mutation was found in exon 4 of the CFTR gene. The change is a 3-bp deletion from nucleotide 475 to 477 causing the loss of a glutamic acid. The [delta]E115 mutation was detected by SSCp analysis and further confirmed by direct sequencing in both directions. This mutation was found in 1 CBAVD-non CF individual.
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Contributors
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Chillon M,
Casals T,
Nunes V,
Gimenez J,
Ramos D,
Estivill X
1994-02-07
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Institute
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Instituto de Investigacion Oncologica
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Submitted Phenotype Details
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The patient (male, 32y) was diagnosed with CBAVD. His sweat chloride was 74 mmol/l and he carries S50P on the other allele. (pers corr. Casals)
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Reference
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Chillón et al. 1995 (NL#61)
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