Mutation Details for c.2813T>G

cDNA Name c.2813T>G 
Protein Name p.Val938Gly 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name V938G 
Other Details V938G was identified in two patients, one homozygote with CUAVD, and one heterozygote with CBAVD and carrying the previously reported 174delA mutation. 
Contributors Dörk T, Schmidtke J, Stuhrmann M   1996-09-23
Institute Institut fur Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany. 
Submitted Phenotype Details The homozygous patient (male, 29) was diagnosed with asthma and CUAVD. He is PS. (pers.corr. Doerk) 
Reference Dörk et al. (NL#69) 

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The Database was last updated at Apr 25, 2011