Mutation Details for c.165-10T>G

cDNA Name c.165-10T>G 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 297-10T->G 
Other Details This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one CF patient with severe lung disease, pancreatic insufficiency and sweat chlorides of 65. Patient has 296+9A->T on the other chromosome. 
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 The mutation was found in a PI patient, with severe lung disease and sweat chloride 65 mmol/l, also carrying 296+9A->T. (pers. corr. Zielenski) 
Reference Zielenski et al. 1999 

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The Database was last updated at Apr 25, 2011