Mutation Details for c.3061C>G

cDNA Name c.3061C>G 
Protein Name p.Pro1021Ala 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name P1021A 
Other Details  
Contributors Tzetis M.,   2002-01-01
Institute Department of Medical Genetics University of Athens St Sophia's Children's Hospital 
Submitted Phenotype Details The patient (male, 10 years) was diagnosed at 4 months of age. He is PI, FEV1 was 90% and sweat chloride 86.4 mmol/l. He has Haemophilus Influenzae and Pseudomonas Aeruginosa infections. He carries deltaF508 on the other allele. (pers.corr. Tzetis) 

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