Mutation Details for c.3218A>G

cDNA Name c.3218A>G 
Protein Name p.Tyr1073Cys 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name Y1073C 
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 identified in a female patient (17 months old) diagnosed at 6 months with neonatal hypertrypsinemia. Her sweat chloride was 36-44 mmol/l, she was PS and had no lung disease. There is not known other mutation identified. (pers. corr. Padoan) 
Reference  

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