Mutation Details for c.4202A>C

cDNA Name c.4202A>C 
Protein Name p.Glu1401Ala 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name E1401A 
Other Details This mutation was detected by multiplex DGGE and identified by direct sequencing. It was founf in a Czech CF pacient with lung disease. [delta]F508 was found on the other chromosome. The patient was referred by the department of Medical Genetics,niversity Hospital Hradec Kralove,Cz. 
Contributors Valaskova I.,Tavandzis S.,Kadlecova J.,Kratochvilova A.,Ravcukova B.,Gaillyova R.,Fiedler Z.,Vanicek H.   2002-10-23
Institute University Children Hospital Brno,Czech Republic University Hospital Hradec Kralove,Czech republic 
Submitted Phenotype Details  

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The Database was last updated at Apr 25, 2011