Mutation Details for c.1681_1682insC

cDNA Name c.1681_1682insC 
Protein Name p.Val562SerfsX6 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name 1813insC 
Other Details This mutation was detected by DGGE and identified by direct sequencing. The frameshift would lead to a downstream stop codon in the CFTR mRNA. This mutation was found in a female with CF carrying the [delta]F508 mutation on the other allele. The mutation was not observed in 100 other CFTR alleles from 50 unrelated individuals without CF history in their families. 
Contributors Scheffer H, Wu Y, Hofstra R, Looman M, Buys C   1996-10-23
Institute Department of Medical Genetics, Faculty of Medical Sciences, University of 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