Mutation Details for c.-93G>C

cDNA Name c.-93G>C 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name 40G/C 
Other Details This defect was identified on one CF chromosome. The 125G/C variant in exon 1 was also identified. None of 29 examined mutations (InnoLipa 12 and InnoLipa 17) were identified. (genotype +/+)  
Contributors Tomasz Fijol, Agnieszka Sobczynska-Tomaszewska, Dorota Sands, Robert Piotrowski, Jerzy Bal, Tadeusz Mazurczak   2006-05-01
Institute Institute of Mother and Child, Warsaw, Poland 
Submitted Phenotype Details - Sex: female, date of birth 1990/07/23 - Meconium ileus: not present - Recurrent bronchitis and pneumonia since early childhood - chronic colonization of respiratory tract with Staphylococcus aureus - Lung CT scan: bronchiectases - Sweat test: 41-51 mmol/l - Pancreatic sufficient - Spirometric values (2005/11/23): FEV1: 3.11 (110%), FVC: 3.21 (95%) - Normal somatic development  

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The Database was last updated at Apr 25, 2011