Mutation Details for c.1703delT

cDNA Name c.1703delT 
Protein Name p.Leu568CysfsX4 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name 1833delT 
Other Details This mutation has been found on one out of 68 non-[delta] Danish CF chromosomes, associated with haplotype C and IVS8CA=7. It was found by SSCP analysis. By screening for mutations by SSCP we found 11 chromosomes (out of 68) wiht the previous published mutation 394delTT. This mutation might be worth looking for. The mutation was associated with haplotype B (IVS8CA) 2 in 6 cases. 
Contributors Schwartz M, Palle AL, Christensen GV,    1992-08-20
Institute Section of Clinical Genetics Rigshopitalet Copenhagen, Denmark 
Submitted Phenotype Details  
Reference Schwartz et al. (NL#49) 

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The Database was last updated at Apr 25, 2011