Mutation Details for c.3876delA

cDNA Name c.3876delA 
Protein Name p.Val1293TyrfsX35 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name 4006delA 
Other Details This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one CF patient (with IVS8-5T on the same chromosome and [delta]F508 on the other); mild lung disease, pancreatic insufficency and sweat chlorideas of 95. 
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 Jordanian CF patient carrying deltaF508 on the other allele, mild lung disease, pancreatic insufficency and sweat chloride of 95 mmol/l. (pers. corr. Zielenski) 
Reference Zielenski et al. 1999 

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The Database was last updated at Apr 25, 2011