Mutation Details for c.164+2T>G

cDNA Name c.164+2T>G 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 296+2T->G  
Other Details This mutation was identified on one Italian CF chromosome in cis with a new variant L24F. The other chromosome bears a delF508 mutation. 
Contributors Seia M, Porcaro G, Corbetta C, Padoan R    2004-06-16
Institute Laboratorio Genetica Medica, ICP, Milano Centro Screening Neonatale e Centro Fibrosi Cistica, ICP, Milano  
Submitted Phenotype Details The individual (male, 1 year) was diagnosed as CF in the first month of life due to positive neonatal screening. His sweat test is 98 mmol/L chloride, he presents a severe pancreatic insufficiency., with early pulmonary symptoms. 

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The Database was last updated at Apr 25, 2011