Mutation Details for c.1029delC

cDNA Name c.1029delC 
Protein Name p.Cys343X 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1161delC 
Other Details The mutation was detected by direct DNA sequencing and is a single base deletion of a cytosine at position 1161 of the CFTR gene. This results in the immediate production of a chain termination codon in codon 343. The mutation was seen in a homozygous form in a female Pakistani child who died at the age of 14 months; cystic fibrosis was diagnosed post mortem. The parents are first cousins and ahve both been confirmed to carry the 1161delC mutation. The mutation is associated with 6 repeats of the IVS6aTTGA VNTR, and 17 repeats of the IVS8CA VNDR. 
Contributors Parveen T, Schwarz M, Malone G, Super M   1992-11-08
Institute Royal Manchester Children's Hospital Pendlebury. England  
Submitted Phenotype Details  
Reference Parveen et al. (NL#50) 

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The Database was last updated at Apr 25, 2011