Mutation Details for c.1894_1895delGA

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

cDNA Name c.1894_1895delGA 
Protein Name p.Glu632ThrfsX9 
Exon or Intron  
Other Details  
Contributors and Institutes
Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Iustina Stan,NSMC Alessandrescu Rusescu, Bucharest, Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic -
Submitted Phenotype Details Romanian patient born 2015, sweat test 92mmol/L, W1282X on the second allele. 

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The Database was last updated at Apr 25, 2011