Mutation Details for c.1163C>T

cDNA Name c.1163C>T 
Protein Name p.Thr388Met 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name T388M 
Other Details The T388M polymorphism was detected by hetroduplex analysis in a Jordanian CF patient.  
Contributors Zielenski J, Markiewicz D, Tsui L-C, Rawashdeh M, Khateeb M   1996-05-01
Institute The Hospital for Sick Children, Toronto & Jordan University of Sci & Technology 
Submitted Phenotype Details The mutation was found in a Jordanian CF patient who is PI. No additional clinical info available. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#68) 

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