Mutation Details for c.165-67A>C

cDNA Name c.165-67A>C 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 297-67A/C 
Other Details This polymorphism was identified by direct DNA sequencing. We believe the polymorphism to be fairly uncommon. In at least 20 chromosomes screened, we have seen it once in heterozygous form and once in homozygous form in a CF patient of Pakistani origin. 
Contributors Haworth A, Malone G, Schwarz M   1994-11-18
Institute Manchester Children's Hospital Pendlebury, England 
Submitted Phenotype Details  
Reference Haworth et al. (NL#64) 

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The Database was last updated at Apr 25, 2011