Mutation Details for c.650A>G

cDNA Name c.650A>G 
Protein Name p.Glu217Gly 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name E217G 
Other Details The mutation was detected by heteroduplex analysis in a 2-year old male Polish patient with high sweat cloride (60-80 meq/l), pancreatic sufficiency, and moderate lung disease. His other CF mutation is unknown. It was also found by Yoshimura in 1999, in the CFTR alleles of a single patient with diffuse panbronchiolitis who has Q1352 H in the other allele.  
Contributors Zielenski J, Aznarez I, Tsui L-C, Bal J, Mazurczak T   1997-11-12
Institute The Hospital for Sick Children, Toronto, Canada Institute for Mother and Child, Warsaw, Poland 
Submitted Phenotype Details No additional clinical info available. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#70) 

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The Database was last updated at Apr 25, 2011