Mutation Details for c.1453A>T

cDNA Name c.1453A>T 
Protein Name p.Ser485Cys 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name S485C 
Other Details This mutation was seen in a patient with bronchiectasis and equivocal sweat test results. Her mother is Caucasian and her father is Chinese. Her other chromosome has yet to have a mutation identified and we do not yet know if the S485C is from her father or mother. 
Contributors Andrew N, Malone G, Schwarz M   1999-06-04
Institute Royal Manchester Children's Hospital England 
Submitted Phenotype Details One female patient born in 1994, unknown other mutation on the other allele. (pers.corr.Schwarz) 
Reference Andrew et al. 1999 

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The Database was last updated at Apr 25, 2011