Mutation Details for c.1163C>T
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cDNA Name
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c.1163C>T
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Protein Name
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p.Thr388Met
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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T388M
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Other Details
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The T388M polymorphism was detected by hetroduplex analysis in a Jordanian CF patient.
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Contributors
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Zielenski J,
Markiewicz D,
Tsui L-C,
Rawashdeh M,
Khateeb M
1996-05-01
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Institute
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The Hospital for Sick Children,
Toronto & Jordan University of Sci & Technology
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Submitted Phenotype Details
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The mutation was found in a Jordanian CF patient who is PI. No additional clinical info available. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#68)
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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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