Mutation Details for c.1763A>T

cDNA Name c.1763A>T 
Protein Name p.Glu588Val 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name E588V 
Other Details This mutation was identified by DGGE method and direct sequencing. 
Contributors Alonso MJ, Telleria J, Fernandez I, Blanco A.   2005-08-23
Institute Instituto de Biolog?a y Gen?tica Molecular (IBGM) 
Submitted Phenotype Details This mutation was identified in a 26 years-old spanish male affected by CBAVD, bronchiectasis and positive sweat test (101mmol). The patient carries F508del mutation in the other chromosome.  

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The Database was last updated at Apr 25, 2011