Mutation Details for c.2554dupT

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.2554dupT 
Protein Name p.Tyr852LeufsX44 
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 220 other chromosomes from Argentina CF patients and was found together with a splice mutation, c.2657+5G>A (2789+5G>A).  
Contributors and Institutes
Xavier Pepermans - Center for Human Genetics, Université Catholique de Louvain (UCL), Brussels, Belgium
Juan Carlos Chacra and Ziomara Reeves - Instituto del Nino, Rosario, Argentina
Sergio Chialina, Soledad Mellado and Claudia Fornes - STEM Laboratory, Rosario, Argentina
Liliana Gallardo - Hospital de Ninos Vilela, Rosario, Argentina
Walter Bordino - Paediatrics, Facultad de Medecina IUNIR, Rosario, Argentina
Teresinha Leal - IREC, UCL, Brussels, Belgium
  
Submitted Phenotype Details The patient is a 2-year old Argentina girl with no family history of CF. The patient was diagnosed as CF in the first month of life due to positive neonatal screening (IRT=135 ng/ml; positive value>70 ng/ml). Her sweat test is 105 mmol/L chloride and she presents early pulmonary symptoms. 
Reference  

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The Database was last updated at Apr 25, 2011