Mutation Details for c.3793G>A

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.3793G>A 
Protein Name p.Gly1265Arg 
Exon or Intron  
Other Details  
Contributors and Institutes
O. Essawi - Birzeit University, State of Palestine
M. Farraj - Birzeit University, State of Palestine
K. De Leeneer - Ghent University, Belgium
W. Steyaert - Ghent University, Belgium
K. De Pauw - Ghent University, Belgium
A. De Paepe - Ghent University, Belgium
K. Claes - Ghent University, Belgium
T. Essawi - Birzeit University, State of Palestine
P. J. Coucke - Ghent University, Belgium
  
Submitted Phenotype Details an 8 years old Arabic male from Gaza, Palestine with a sweat chloride value of 90 (mEq/L) 
Reference http://www.hindawi.com/journals/dm/2015/458653/ 

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The Database was last updated at Apr 25, 2011