Mutation Details for c.72G>C

cDNA Name c.72G>C 
Protein Name p.Leu24Phe 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name L24F  
Other Details This mutation was identified in cis with the novel mutation 296+2T to G on one Italian CF chromosome. The other chromosome shows 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