Mutation Details for c.3038C>T
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cDNA Name
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c.3038C>T
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Protein Name
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p.Pro1013Leu
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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P1013L
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Other Details
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The mutation was detected by heteroduplex analysis. It was found in a Turkish CF patient. The second mutation: unknown.
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Contributors
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Onay T,
Kirdar B,
Zielenski J,
Markiewicz D,
Tsui L-C
1996-10-07
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Institute
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Bogazici University,
Istanbul, Turkey
The Hospital for Sick Children,
Toronto, Canada
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Submitted Phenotype Details
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The mutation was found in a CF patient carrying 2752-15C->G on the other allele, sweat chloride 65 mmol/l. (Onay et al. 1998)
P1013L (3170C>T)was found in a 52y female, PS, with moderate lung disease (disseminated bronchiectasis, rhinosinusitis, sarcoidosis), negative sweat chloride and infertility. (pers. corr. Girodon)
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Reference
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Onay et al. (NL#69)
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