Mutation Details for c.3095A>G

cDNA Name c.3095A>G 
Protein Name p.Tyr1032Cys 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name Y1032C 
Other Details Mutation Y1032C was identified in a German CBAVD patient who is heterozygous for Y1032C and for the [delta]F508 deletion. 
Contributors Dörk T, Hughes D, Dworniczak B, Stuhrmann M   1997-01-30
Institute Institut fur Humangenetik, Medizinische Hochschule Hannover Hannover, Germany 
Submitted Phenotype Details The patient (male) was diagnosed at 34 with CBAVD. He is PS and carries DelF508 on the other allele. (pers.corr. Doerk) 
Reference Dörk et al. (NL#69) 

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The Database was last updated at Apr 25, 2011