Mutation Details for c.3925C>T
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cDNA Name
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c.3925C>T
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Protein Name
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p.Gln1309X
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Exon or Intron
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Other Details
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This mutation was detected by exon sequencing. The mutant sequence was not found in 107 other chromosomes from Brazilian CF patients and was found together with a missense mutation, R347Q.
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Contributors and Institutes
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| Xavier Pepermans | - | Center for Human Genetics, Université Catholique de Louvain, Brussels, Belgium | | Fernando Antonio de Abreu e Silva | - | Department of Pediatrics, Division of Pediatric Pulmonology, Hospital de Clinicas de Porto Alegre, Porto Alegre, RGS, Brazil | | Anneliese Hoffmann | - | Department of Pediatrics, Division of Pediatric Pulmonology, Hospital de Clinicas de Porto Alegre, Porto Alegre, RGS, Brazil | | Maria Luiza Saraiva-Pereira | - | Medical Genetics Service and Biochemistry Department, Hospital de Clinicas de Porto Alegre, Porto Alegre, RGS, Brazil | | Teresinha Leal | - | Center for Human Genetics, Université Catholique de Louvain, Brussels, Belgium |
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Submitted Phenotype Details
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The patient is a 9-year old Brazilian boy referred to a CF center by age of 6 years with respiratory symptoms. He has chronic colonization by Pseudomonas aeruginosa, nasal polyps and elevated sweat chloride concentrations (between 107 and 135 mmol/L). The patient is pancreatic sufficient.
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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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