Mutation Details for c.4051A>G

cDNA Name c.4051A>G 
Protein Name p.Lys1351Glu 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name K1351E 
Other Details Missense mutation K1351E was identified in a German CBAVD patient who is heterozygous for this mutation and for [delta]F508.  
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 male patient was diagnosed with CBAVD, and is PS. He carries DeltaF508 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