Mutation Details for c.2738A>C

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.2738A>C 
Protein Name p.Tyr913Ser 
Exon or Intron  
Other Details 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. 
Contributors and Institutes
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
Submitted Phenotype Details 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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The Database was last updated at Apr 25, 2011