Mutation Details for c.1611C>A

cDNA Name c.1611C>A 
Protein Name p.Asp537Glu 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name D537E 
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 found in a 34 years old male with CBAVD, who is PS, has no lung disease and Sweat Chloride was 24 mmol/l. He carries R117H-7T on the other allele. (pers.corr. Padoan) 

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The Database was last updated at Apr 25, 2011