Mutation Details for c.2936A>C

cDNA Name c.2936A>C 
Protein Name p.Asp979Ala 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name D979A 
Other Details D979A was found in a Vietnamese CBAVD patient carrying a yet unknown mutation on the other allele. 
Contributors Dörk T, Stuhrmann M   1996-04-29
Institute Medizinische Hochschule, Hannover, Germany 
Submitted Phenotype Details The patient (male, 31) was diagnosed at 30 with CBAVD. He is PS, has mild lung disease (FEV1 70%) and sweat chloride 55 mmol/l. He carries the 5T mutation on the other allele. (pers. corr. Doerk) 
Reference Dörk and Sturhmann (NL#68) 

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The Database was last updated at Apr 25, 2011