Mutation Details for c.3629T>A

cDNA Name c.3629T>A 
Protein Name p.Met1210Lys 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name M1210K 
Other Details This mutation was identified on one CF chromosome of Eastern Europe origin (Romania) . The other chromosome bears a R1066C 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 118 mmol/L chloride, he is pancreatic insufficient.  

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The Database was last updated at Apr 25, 2011