Mutation Details for c.-9_14del23
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cDNA Name
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c.-9_14del23
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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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124del23bp
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Other Details
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Mutation is detected by TTGE and confirmed with sequencing.
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Contributors
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Alper Özgül, Wong LJC, Kharrazi M.
2003-07-13
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Institute
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Institute for Molecular and Human Genetics, Georgetown University Medical Center
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Submitted Phenotype Details
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Reference
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Hispanic male patient, diagnosed at 6 months of age, pancreatic insufficient, sweat chloride level of 92mmol/L, FEV 39%, FVC 48%, colonized with Staphylococcus aureus. The other mutant allele is R553X.
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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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