Mutation Details for c.1675G>T

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

cDNA Name c.1675G>T 
Protein Name p.Ala559Ser 
Exon or Intron  
Other Details Variation found by CFTR Devyser NGS kit, confirmed by sanger sequencing 
Contributors and Institutes
mgr Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr Dr. Guergana Petrova – Alexandrovska - University Hospital Sofia, prof.Milan Macek Faculty Hospital Motol, Prague, Czech Republic.
Submitted Phenotype Details Two years old bulgarian boy, pancratic insufiency, sweat test 69,5 Cl 

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The Database was last updated at Apr 25, 2011