Mutation Details for c.533G>A

cDNA Name c.533G>A 
Protein Name p.Gly178Glu 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name G178E 
Other Details The patient inherited this mutation from her father. This mutation was not found in a sample of 50 Czech random controls and was not found in other screened CF patients with yet unidentified alleles. The other allele in trans is F508del. 
Contributors Soldatova I, Hemrova T, Krepelova A, Vavrova V, Honomichlova H, Holubova A, Macek Jr. M.   2004-09-22
Institute Institute of Biology and Medical Genetics P Cystic Fibrosis Center, University Hospital Motol, Prague, Czech Republic <p> tel: + 420 224 439 548 /including voice mail/ <p> FAX: + 420 224 433 520 <p> Milan.Macek.Jr@LFMOTOL.CUNI.CZ <p> WebSite 
Submitted Phenotype Details The patient has classical form of CF and was diagnosed at the age of 2 months. Her sweat chloride concentration is 110 mmol/l. 

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The Database was last updated at Apr 25, 2011