Mutation Details for c.-93G>C
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cDNA Name
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c.-93G>C
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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40G/C
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Other Details
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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 +/+)
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Contributors
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Tomasz Fijol, Agnieszka Sobczynska-Tomaszewska, Dorota Sands, Robert Piotrowski, Jerzy Bal, Tadeusz Mazurczak
2006-05-01
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Institute
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Institute of Mother and Child, Warsaw, Poland
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Submitted Phenotype Details
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- 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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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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