Mutation Details for c.1302delA

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

cDNA Name c.1302delA 
Protein Name p.Leu435PhefsX7 
Exon or Intron  
Other Details  
Contributors and Institutes
Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Juška Tjeslič-Drinkovič, Univ.Hospital Centre Zagreb, Croatia, Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic -
Submitted Phenotype Details 7 months old caucasian patient, failure to thrive, PI, sweat test 70mmol/L 

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The Database was last updated at Apr 25, 2011