Mutation Details for c.42delA

cDNA Name c.42delA 
Protein Name p.Lys14AsnfsX11 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name 174delA 
Other Details frameshift mutation 174delA was identified in a heterozygous CBAVD patient with a yet uncharacterized other allele.  
Contributors Dörk T, El-Harith E-H, Ellemunter H, Schmidtke J, Stuhrmann M   1996-08-13
Institute Institut fur Humangenetik, Medezinische Hochschule Hannover, Hannover, Germany. 
Submitted Phenotype Details The patient (male) was diagnosed at 30y with CBAVD. He is PS, has sweat chloride 42 mmol/l and no lung disease. He carries V938G 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