Mutation Details for c.3218A>G

cDNA Name c.3218A>G 
Protein Name p.Tyr1073Cys 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name Y1073C 
Other Details  
Contributors Seia M., Padoan R.   2002-01-01
Institute Lab. Genetica Molecolare, Centro Fibrosi Cistica, ICP e Universit√† degli Studi, Italy 
Submitted Phenotype Details The mutation was identified in a female patient (17 months old) diagnosed at 6 months with neonatal hypertrypsinemia. Her sweat chloride was 36-44 mmol/l, she was PS and had no lung disease. There is not known other mutation identified. (pers. corr. Padoan) 

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The Database was last updated at Apr 25, 2011