Mutation Details for c.2738A>C
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.2738A>C
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Protein Name
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p.Tyr913Ser
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Exon or Intron
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Other Details
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This mutation was detected by exon and intron-exon border sequencing. No abnormality was detected by the MLPA method. The mutant sequence was found together with a c.1521_1523delCTT (p.Phe508del) mutation. The parents study defined both variant in trans.
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Contributors and Institutes
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Xavier Pepermans | - | Center for Human Genetics, Université Catholique de Louvain (UCL), Brussels, Belgium | Patrick Lebecque | - | Pediatric Pulmonology & Cystic Fibrosis Unit, Cliniques Universitaires St Luc, UCL, Brussels, Belgium | Bosmans Arnaud | - | Center for Human Genetics, UCL, Brussels, Belgium | Teresinha Leal | - | Institut de Recherche Expérimentale et Clinique (IREC), UCL, Brussels, Belgium |
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Submitted Phenotype Details
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Patient aged 23 years, diagnosed with CF beyond 6 months of age during hospitalization for bronchitis. Sweat chloride 102 mMol/L. Pancreatic insufficiency. Digital clubbing. FEV1 : 6.43 L (133%pred), FVC : 7.25 L (130%pred), BMI : 26.3 kg/m2 (Z score : 1.1).
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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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