Mutation Details for c.164+28A>G
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cDNA Name
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c.164+28A>G
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Exon or Intron
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intron 2
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Legacy Exon or Intron
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intron 2
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296+28A->G
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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.
2003-08-21
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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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The Hispanic patient was diagnosed at 3 days of age, pancreatic insufficient; sweat chloride level was 107mmol/L; having meconium ileus and microbial colonization with Staphylococcus aureus.
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Reference
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Alper Özgül, Wong LJC., Kharrazi M., 2003
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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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