Mutation Details for c.1744A>T

cDNA Name c.1744A>T 
Protein Name p.Thr582Ser 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name T582S 
Other Details  
Contributors Seia M., Padoan R.   2002-01-01
Institute Lab. Genetica Molecolare, Centro Fibrosi Cistica, ICP e Universit√† degli Studi, Italy 
Submitted Phenotype Details The mutation was found in 2 patients, both males, carrying unknown other mutation, both PS, with mild or no lung disease and sweat chloride less then 60 mmol/l. One was 40, diagnosed with bronchiectasis and the other was 20, diagnosed with CBAVD. (pers. corr. Padoan) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011