Mutation Details for c.4170delA

cDNA Name c.4170delA 
Protein Name p.Ala1391HisfsX7 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name 4301(4302?)delA 
Other Details The mutation was found in a CF patient whose other mutation is [delta]F508, and we have seen it only once. 
Contributors Shaw H, Hinks J, Brownsell E, Malone G M, Schwarz M J   2001-07-30
Institute Royal Manchester Children's Hospital England, UK 
Submitted Phenotype Details The mutation was found in a patient (female) born in July 1979, carruing DeltaF508 on the other allele. (pers. corr. Schwarz) 
Reference Shaw et al. 2001 

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The Database was last updated at Apr 25, 2011