Mutation Details for c.146T>C

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

cDNA Name c.146T>C 
Protein Name p.Leu49Pro 
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 nonsense mutation, (c.3484C>T, p.Arg1162*).  
Contributors and Institutes
Xavier Pepermans - Center for Human Genetics, Université Catholique de Louvain (UCL), Brussels, Belgium
Marta Wagener - Hospital de Niños Dr. O. Alassia, Santa Fe, Argentina
Sergio Chialina, Soledad Mellado and Claudia Fornes - STEM Laboratory, Rosario, Argentina
Teresinha Leal - LTAP/IREC, UCL, Brussels, Belgium
Submitted Phenotype Details The patient is a 1-year old Argentina boy with no family history of CF. The patient was diagnosed as CF in the first month of life due to positive neonatal screening. He presented early pulmonary symptoms. Sweat testing: chloride 76 and 66 mMol/L. 

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The Database was last updated at Apr 25, 2011