Mutation Details for c.3816_3817delGT

cDNA Name c.3816_3817delGT 
Protein Name p.Ser1273LeufsX28 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name 3944delGT 
Other Details This mutation was detected in a deceased Czech male CF patient. No clinical information was available 
Contributors Macek M, Jr, Krebsova A, Macek M, Reynaert I, Cassiman J-J, Cuppens H   1997-12-12
Institute Charles University, Prague, Czech Republic University of Leuven, Gasthuisberg, Leuvan, Belgium 
Submitted Phenotype Details The 3944delTT mutation was associated with classical severe CF phenotype, the patient died;the patient was diagnosed at 1y of age, was PI, with severe lung disease and sweat chloride over 80 mmol/l. (pers. corr. Macek) 
Reference Macek et al. (NL#70) 

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The Database was last updated at Apr 25, 2011