Mutation Details for c.-869T[8_9]
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cDNA Name
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c.-869T[8_9]
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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-790T9/8
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Other Details
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The row of T's were found to be shortened from 9 to 8 in 2 parental chromosomes of two different Turkish CF families. The change was detected by heteroduplex analysis and direct sequencing. The estimated allele frequency for 8T was 2.4%.
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Contributors
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Onay T,
Kirdar B
1998-02-26
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Institute
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Bogazici University,
Istanbul, Turkey
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Submitted Phenotype Details
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Reference
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Onay & Kirdar (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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