Mutation Details for c.563T>C

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

cDNA Name c.563T>C 
Protein Name p.Leu188Pro 
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 not found in 200 other chromosomes from Belgium CF patients and was found together with a nonsense mutation, (c.1624G>T, p.Gly542*).  
Contributors and Institutes
Xavier Pepermans - Center for Human Genetics, Université Catholique de Louvain (UCL), Brussels, Belgium
Prof. Pierre Deprez and Dr. Coralie Hamoir - Gastro-Entérologie, Cliniques Universitaires saint Luc, Brussels, Belgium
Dr. Jacques Deflandre and Dr. Florence Breuskin - Gastro-Entérologie, C.H.R. de la Citadelle, Liège, Belgium
Dr. Teresinha Leal - LTAP/IREC, UCL, Brussels, Belgium
Submitted Phenotype Details The patient is a 23 year old Belgian boy with no family respiratory of CF. He was diagnosed by age of 14 years with recurrent acute pancreatitis. He has no respiratory symptoms but has elevated sweat chloride test (Cl concentration between 79 and 104 mmol/l).  

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The Database was last updated at Apr 25, 2011