Mutation Details for c.3468+2_3468+3insT

cDNA Name c.3468+2_3468+3insT 
Exon or Intron intron 21 
Legacy Exon or Intron intron 18 
Legacy Name 3600+2insT 
Other Details The mutation was detected by heteroduplex analysis in a 1-year old female Polish patient with high sweat chloride (120 meq/l), pancreatic insufficiency, and mild lung disease. Her other CF mutation was unknown. 
Contributors Zielenski J, Aznarez I, Tsui L-C, Bal J, Mazurczak T   1997-11-12
Institute The Hospital for Sick Children, Toronto, Canada Institute for Mother and Child, Warsaw, Poland 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#70) 

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