Mutation Details for c.2818_2819delAC

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

cDNA Name c.2818_2819delAC 
Protein Name p.Thr940SerfsX34 
Exon or Intron  
Other Details  
Contributors and Institutes
Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Minira Bulgenova and Dr. Gulnara Svjatova–Pediatric Clinic – Medical Genetics Centre, Almaty, Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic -
Submitted Phenotype Details 5 years old patient from Kazakhstan, F508del on the second alelle. 

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The Database was last updated at Apr 25, 2011