Mutation Details for c.2600_2601insA

cDNA Name c.2600_2601insA 
Protein Name p.Val868SerfsX28 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name 2732insA 
Other Details This mutation was seen in a CF patient whose other CF mutation is [delta]F508. The patient was referred by Dr Linda Meredith of the Medical Genetics Service for Wales. We have seen this mutation only once in over 100 CF chromosomes screened.  
Contributors Andrew N, Malone G, Busby L, Schwarz M   2000-02-01
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The CF patient (male) was born in May 1996 and carries DelF508 on the other allele. (pers. corr. Schwarz) 
Reference Andrew et al 2000 

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The Database was last updated at Apr 25, 2011