Mutation Details for c.3744delA

cDNA Name c.3744delA 
Protein Name p.Lys1250ArgfsX9 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name 3876delA 
Other Details This mutation was detected by heteroduplex analysis and direct DNA sequencing in one CF patient carrying [delta]F508 as the other allele. This mutation was also reported by Wang et al. (12/11/98). It was detected by TTGE (Temporal Temperature Gel Electrophoresis) and identified by direct sequencing. 
Contributors Zielenski J, Tzountzouris J, Tsui L-C   1997-08-12
Institute The Hospital for Sick Children, Toronto, Canada 
Phenotype Information CFTR2
Reference Zielenski et al. (NL#70) 

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The Database was last updated at Apr 25, 2011