Mutation Details for c.3041_3042delAC
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cDNA Name
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c.3041_3042delAC
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Protein Name
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p.Ile1015LeufsX31
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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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3173delAC
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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: F1052V. Clinical symptoms: elevated sweat Cl-, liver cirrhosis.
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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 identified in a patient with liver cirrhosis and elevated sweat chloride carrying F1052V on the other allele.(Onay et al. 1998)
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Reference
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Onay et al. (NL#69)
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