Mutation Details for c.743G>A

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.743G>A 
Protein Name p.Arg248Lys 
Exon or Intron  
Other Details Mutation found by NGS CFTR kit, confirmed by sanger sequencing 
Contributors and Institutes
mgr Malgorzata Libik PhD, Faculty Hospital Motol,Czech Republic, Prof. Eman Fouda Ain Shams University,Egypt, Prof. Milan Macek, Faculty Hospital Motol, Czech Republic -
Submitted Phenotype Details Egyptian patient, heterozygote for mutation c.743G>A 

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The Database was last updated at Apr 25, 2011