Mutation Details for c.172G>A

cDNA Name c.172G>A 
Protein Name p.Asp58Asn 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name D58N 
Other Details Missense mutations D58N was found in a CBAVD patient with an yet unidentified mutation on his other allele. 
Contributors Dörk T, Schmidtke J, Stuhrmann M   1996-10-06
Institute Insitut fur Humangenetik, Medezinische Hochschule Hannover, Hannover, Germany. 
Submitted Phenotype Details The patient (male, 25) was diagnosed at 25 with CBAVD. He is PS, has sweat chloride of 55 mmol/l and no lung disease. He carries the 5T mutation on the other allele. (pers.corr. Dork) 
Reference Dörk et al. (NL#69) 

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The Database was last updated at Apr 25, 2011