Mutation Details for c.3540delA

cDNA Name c.3540delA 
Protein Name p.Lys1180AsnfsX12 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3670delA 
Other Details This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in two CF patients, homozygotes for the mutation. Both patients presented with severe lung disease and pancreatic insufficiency. Sweat chlorides were 110 and 112. 
Contributors Zielenski J, Aznarez I, Tsui L-C Rawashdeh M, Khateeb   1999-06-07
Institute The Hospital for Sick Children Toronto, Canada Jordan University of Science & Technology Aman, Jordan 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Zielenski et al. 1999 

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