Mutation Details for c.165-3C>A
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cDNA Name
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c.165-3C>A
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Exon or Intron
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intron 2
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Legacy Exon or Intron
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intron 2
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297-3C->A
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Other Details
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The mutation was found in one Swedish CF patient by multiplex heteroduplex analysis on an MDE gel. The patient carried [delta]F508 on the other allele; the patient had sweat chloride of 90 meq/l, pancreatic sufficient, and mild lung disease.
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Contributors
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Zielenski J,
Tzountzouris J,
Tsui L-C,
Bjorck E,
Strandvik B,
Wahlstrom J
1998-03-18
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Institute
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The Hospital for Sick Children,
Toronto, Canada
Sahlgrenska University Hospital
East Gothenberg, Sweden
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Submitted Phenotype Details
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The patient is PS, has mild pulmonary symptoms and sweat chloride of 90 mmol/l and carries deltaF508 on the other allele. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#70)
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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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