Mutation Details for c.[1075C>A;1079C>A]
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cDNA Name
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c.[1075C>A;1079C>A]
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Protein Name
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p.[Gln359Lys;Thr360Lys]
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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Q359K/T360K
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Other Details
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These two mutation were discovered together on 6 CF chromosomes, from 3 unrelated Jewish CF families from Georgia, Russia. All the CF children in these families were homozygous for these two mutations. The mutations were not found in 30 normal Jewish and Arab chromosomes nor in 63 other CF chromosomes.
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Contributors
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Shoshani T,
Basham N,
Kerem B
1991-03-21
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Institute
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The Hebrew Univeristy of Jerusalem
Jerusalem, Israel
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Phenotype Information
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CFTR2
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Reference
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Shoshani et al. 1992
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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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