Mutation Details for c.4312C>T

cDNA Name c.4312C>T 
Protein Name p.Arg1438Trp 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name R1438W  
Other Details This mutation was identified on one Italian CF chromosome, and on the same chromosome the S977F variant was found. delF508 was identified on the other chromosome. 
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, 18 years) was diagnosed as CF at 1 year due to respiratory symptoms. His sweat test is 78 mmol/L chloride, he is pancreatic sufficient. At present his growth and lung function are in the normal range. 

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The Database was last updated at Apr 25, 2011