Mutation Details for c.3025G>A

cDNA Name c.3025G>A 
Protein Name p.Ala1009Thr 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name A1009T 
Other Details This mutation was detected by DGGE analysis and identified by automatic sequencing. It was found in 2 out of 600 chromosomes, in 2 adult blood donors. It was never observed in 104 chromosomes of COPD patients, in 68 chromosomes of sarcoidosis patients, in 46 chromosomes of DBE patients, in 106 chromosomes of CF patients. 
Contributors Bombieri C, Belpinati F, Pignatti PF   2000-04-17
Institute Section of Biology and Genetics DMIBG, University of Verona, Italy 
Submitted Phenotype Details This individual (M) is 46y and is NOT a CF patient, but a blood donor. No other mutation was found. (Pers. corr. Bombieri) 
Reference Bombieri et al. 2000 

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The Database was last updated at Apr 25, 2011