Mutation Details for c.960A>T

cDNA Name c.960A>T 
Protein Name p.Leu320Phe 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name L320F 
Other Details The L320F mutation was detected in aCzech 8 year old male CF patient. His other CF allele has not been identified thus far. This mutation was not detected by ASO hybridization on 144 non-CF chromosomes of Czech parents. The diagnosis of CF was raised in the first year of life due to malabsorption with repeated bronchopneumonias, and finally substantiated by sweat chloride concentrations of 36, 38 and 55 mM. The patient also suffers from generalized eczema with pronounced blood eosinophilia.  
Contributors Macek MJr, Mackova A, ME Egan, Cutting GR   1994-10-03
Institute Center for Medical Genetics Baltimore, MD, USA 
Submitted Phenotype Details The patient has chronic ABPA (suspected due to pronounced eosinocytosis). (pers. corr. Macek) 
Reference Macek et al. (NL#64) 

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The Database was last updated at Apr 25, 2011