Mutation Details for c.1209+28C>T

cDNA Name c.1209+28C>T 
Exon or Intron intron 9 
Legacy Exon or Intron intron 8 
Legacy Name 1341+28C/T 
Other Details This mutation was detected by DGGE analysis and identified by automatic sequencing in a 22 years old blood male donor. The mutation creates a Dra I restriction site. It was found once out of 100 control chromosomes. It was never observed in 104 chromosomes of Chronic Obstructive Pulmonary Disease (COPD) patients (DGGE), in 46 chromosomes of Diffuse Bronchiectasis (DBE) patients (DGGE), and in 60 chromosomes of CF patients (SSCP). 
Contributors Bombieri C, Belpinati F, Benetazzo M G, Pignatti P F   1999-02-01
Institute Inst. Biology and Genetics University of Verona, Italy 
Submitted Phenotype Details This individual (M) is 22y and is NOT a CF patient. F1052V and S1235R were both found on the other allele. 
Reference Bombieri et al. 1999 

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The Database was last updated at Apr 25, 2011