cDNA Name
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c.2443G>T
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Protein Name
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p.Glu815X
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Exon or Intron
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Other Details
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Because of the clinical findings, the p.Glu815* mutation was classified as a CF causing mutation.
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Contributors and Institutes
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Instituto Venezolano de Investigaciones Cientificas | - | |
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Submitted Phenotype Details
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The p.Glu815* mutation was caused by the transversion of G to T at nucleotide position c.2444 in exon 13. It changes a glutamic acid to a stop codon at amino acid 815 of the protein. This mutation was found to be homozygotic in a third generation Venezuelan male patient. The patient has respiratory and gastric symptomatology that appeared for the first time at age 6 months, and he had two positive sweat chloride tests (111 and 108 mmol/L)
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Reference
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in prees
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