Mutation Details for c.1162_1168delACGACTA

cDNA Name c.1162_1168delACGACTA 
Protein Name p.Thr388GlnfsX3 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name 1294del7 
Other Details The mutation was detected by DGGE and identified by direct sequencing. The defect is a deletion of seven nucleotides at position 1294 in exon 8 (1294del7). This mutation will lead to a downstream stopcodon in the CFTR mRNA. This mutation has been found in a male with CF carrying the [delta]F508 mutation on the other allele. 
Contributors Scheffer H, Wu Y, Hofstra R, Looman M, Buys C   1996-11-26
Institute Department of Medical Genetics University of Groningen, Faculty of Medical Sciences Groningen, The Netherlands 
Submitted Phenotype Details  
Reference Scheffer et al. (NL#69) 

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The Database was last updated at Apr 25, 2011