Mutation Details for c.3691delT

cDNA Name c.3691delT 
Protein Name p.Ser1231ProfsX4 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3821-3823del T 
Other Details The mutation was detected by direct sequencing. This Hispanic CF patient has S945L on the other CF chromosome.  
Contributors Wong L-J C, Alper Ö    2002-06-18
Institute Institute for Molecular and Human Genetics Georgetown University Medical Center 
Submitted Phenotype Details The mutation was found in a 35 years old Hispanic CF patient diagnosed at 29. He is PS, has sweat chloride 60 mmol/l and carries S945L on the other allele. (pers. corr. Alper) 
Reference Wong & Alper 2002 

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The Database was last updated at Apr 25, 2011