Mutation Details for c.1950C>T

cDNA Name c.1950C>T 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2082C/T 
Other Details This mutation was detected by DGGE analysis and identified by automatic sequencing. The mutation destroys a Taq I restriction site. It was found once out of 100 control chromosomes, in a 38 years old blood female donor. It was absent in 104 chromosomes of COPD patients, in 46 chromosomes of DBE patients, and in 60 chromosomes of CF patients, all screened by DGGE). 
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 (F) is 38y and is NOT a CF patient. She is a blood donor. No other muation was found. 
Reference Bombieri et al. 1999 

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The Database was last updated at Apr 25, 2011