Mutation Details for c.164G>A

cDNA Name c.164G>A 
Protein Name p.Arg55Lys 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name R55K 
Other Details The R55K mutation was detected in CFTR gene by DHPLC and identified by direct sequencing. The other mutation was not found, while we analyzed the 27 exons by DGGE or DHPLC. No exonic deletion was found by MLPA.  
Contributors Pasquet M.C., Baudis M, Creveaux I., Kitzis A.   2006-01-12
Institute Laboratoire de Genetique Cellulaire et Moleculaire, CHU de Poitiers, France 
Submitted Phenotype Details The patient, 42 years old, suffers from bronchitis and presents 4 abnormal sweet tests. The other mutation was not found. 

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The Database was last updated at Apr 25, 2011