Mutation Details for c.2279C>T

cDNA Name c.2279C>T 
Protein Name p.Thr760Met 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name T760M 
Other Details This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in a CF patient with moderate lung disease, pancreatic insufficiency and sweat chlorides of 100. The patient had 1677delTA on the same chromosome and [delta]F508 on the other. 
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 

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The Database was last updated at Apr 25, 2011