Mutation Details for c.3528delC

cDNA Name c.3528delC 
Protein Name p.Lys1177SerfsX15 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3659delC 
Other Details A frameshift mutation in exon 19 in a single CF chromosome found in family #2. This mutation was not present in 57 non-[delta]F508 CF chromosomes and 50 N chromosomes. The deletion may by detected by PCR with a common oligonucleotide primer 19i-5 and 2 ASO primers. 
Contributors Kerem B, Zieleski J, Bozon D, Tsui LC   1990-05-04
Institute The Hospital for Sick Children Toronto, ON, Canada 
Phenotype Information CFTR2
Reference Kerem et al. 1990 

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The Database was last updated at Apr 25, 2011