Mutation Details for c.3_122del120ins300

cDNA Name c.3_122del120ins300 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name 135del120ins300 
Other Details  
Contributors Doerk T.   2002-01-01
Institute Medizinische Hochschule Hannover Hannova, Germany 
Submitted Phenotype Details The homozygous female CF patient (2y8m) was diagnosed when 1y7m old. She has severe lung disease, is PI and has liver disease. (pers. corr. Doerk) 

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