Mutation Details for c.1393-1G>A

cDNA Name c.1393-1G>A 
Exon or Intron intron 10 
Legacy Exon or Intron intron 9 
Legacy Name 1525-1G->A 
Other Details The CF patient who inherited this mutation from her Afghanian father is severely affected and carries an yet unidentified mutation on her maternal CF chromosome. We have no more chromosomes of Indoiranian origin and did not detect this mutaion on 10 Turkish and 52 German CF chromosomes. 
Contributors Dork T, Tummler B   1991-02-07
Institute Medizinische Hochshcule Hannover Hannova, Germany 
Phenotype Information CFTR2
Reference Dörk et al. 1993a 

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The Database was last updated at Apr 25, 2011