Mutation Details for c.2467G>T

cDNA Name c.2467G>T 
Protein Name p.Glu823X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name E823X 
Other Details This mutation was detected by DGGE and direct sequencing. E823X was found in a male CF patient whose parent's origin is from Syria. The patient's other mutation is unknown. 
Contributors Tzetis M, Antoniadi Th, Kanavakis E   1998-02-02
Institute St. Sophia's Children's Hospital, Athens, Greece 
Submitted Phenotype Details The mutation was found in a 12 years old male patient, PI, with FEV1 66% and chronic cough, sweat chloride 120 mmol/l, DIOS and cirrhosis. He carries 3120+1kbdel8.6kb on the other allele. (pers. corr. Tzetis) 
Reference Tzetis et al. (NL#70) 

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The Database was last updated at Apr 25, 2011