Mutation Details for c.563T>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.563T>C
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Protein Name
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p.Leu188Pro
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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 not found in 200 other chromosomes from Belgium CF patients and was found together with a nonsense mutation, (c.1624G>T, p.Gly542*).
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Contributors and Institutes
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| 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 |
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Submitted Phenotype Details
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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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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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