Mutation Details for c.1919_1920delTT

cDNA Name c.1919_1920delTT 
Protein Name p.Phe640X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2051delTT 
Other Details This deletion was found by SSCA and identified by direct DNA sequencing in a Spanish CF patient whose other CF mutation was 2603delT. No clinical data available. 
Contributors Casals T, Ramos M D, Jimenez J, Nunes V, Estivill X   1998-12-31
Institute IRO Barcelona, Spain 
Submitted Phenotype Details The patient (male, 12y) has sweat chloride 100 mmol/l and carries 2603delT on the other allele. The patient has PA and Staph Aureus colonization. (pers. corr. Casals) 
Reference Casals et al. 1998 

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