Mutation Details for c.531dupT

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

cDNA Name c.531dupT 
Protein Name p.Gly178TrpfsX5 
Exon or Intron  
Other Details Mutation found by NGS CFTR Devyser kit, confirmed with sanger sequencing. 
Contributors and Institutes
mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Neocleous Vassos and Dr. Yiallouris Panayiotis – The Cyprus Institute of Neurology - & Genetics, Nicosiam Cyprus, Prof. Milan Macek,Faculty Hospital Motol, Prague, Czech Republic
Submitted Phenotype Details Patient from Cyprus. c.4200_4201delTG and c.489+3A>G the second allele. 

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The Database was last updated at Apr 25, 2011