Mutation Details for c.[1075C>A;1079C>A]

cDNA Name c.[1075C>A;1079C>A] 
Protein Name p.[Gln359Lys;Thr360Lys] 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name Q359K/T360K 
Other Details These two mutation were discovered together on 6 CF chromosomes, from 3 unrelated Jewish CF families from Georgia, Russia. All the CF children in these families were homozygous for these two mutations. The mutations were not found in 30 normal Jewish and Arab chromosomes nor in 63 other CF chromosomes. 
Contributors Shoshani T, Basham N, Kerem B   1991-03-21
Institute The Hebrew Univeristy of Jerusalem Jerusalem, Israel 
Phenotype Information CFTR2
Reference Shoshani et al. 1992 

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The Database was last updated at Apr 25, 2011