Mutation Details for c.328G>A

cDNA Name c.328G>A 
Protein Name p.Asp110Asn 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name D110N 
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 3 years old female, diagnosed at 2 months with persistent neonatal hypertrypsinemia. She is PS, has no lung disease and sweat chloride was 41-42 mmol/l.. She carries deltaF508 on the other allele. (pers. corr. Padoan) 

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The Database was last updated at Apr 25, 2011