Mutation Details for c.948delT

cDNA Name c.948delT 
Protein Name p.Phe316LeufsX12 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1078delT 
Other Details This mutation was detected by the SSCP method and consists of a T deletion at nucleotide 1078 (1078 delt T); it does not alter any restriction site. The patient carries a [delta]F508 mutation on the other chromosome. 
Contributors Claustres M, Gerrard B, White MB, Dean M   1991-07-03
Institute National Cancer Institute Frederick, MD, USA 
Phenotype Information CFTR2
Reference Claustres et al. 1992a 

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The Database was last updated at Apr 25, 2011