Mutation Details for c.1141_1142delAA

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

cDNA Name c.1141_1142delAA 
Protein Name p.Lys381AspfsX5 
Exon or Intron  
Other Details c.1141_1142delAA on both alells 
Contributors and Institutes
Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Mona El Falaki – Cairo University, Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic -
Submitted Phenotype Details Mutation was found in 9 years old egypthian patient, sweat test 105mmol/L 

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The Database was last updated at Apr 25, 2011