Mutation Details for c.1196C>A
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cDNA Name
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c.1196C>A
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Protein Name
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p.Ala399Asp
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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A399D
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Other Details
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This change has been detected by DGGE analysis and direct sequencing. The mutation creates a Ple I restriction site
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Contributors
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T. Casals, MD. Ramos, J. Gimenez, N. Cobos
2002-01-01
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Institute
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CGMM-IRO, Barcelona, Spain UFQ, HVH Barcelona,spain
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Submitted Phenotype Details
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The patient (male, 7y) was diagnosed at 5y, PS, sweat test 120mMol/L and FEV1 76%. He carries the 712-1G->T mutation on the other allele.
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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