Mutation Details for c.164+2T>A
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cDNA Name
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c.164+2T>A
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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+2T->A
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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.,
2003-05-01
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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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Black siblings, the male sibling was diagnosed at 15 months of age, pancreatic insufficient; sweat chloride level was 87mmol/L ; FEV 77%; FVC 69%; microbial colonization with Pseudomonas auregunisa and Staphylococcus aureus.
The other female sibling was diagnosed at 8 days, pancreatic insufficient, sweat chloride level was 103mmol/L, microbial colonization with Staphylococcus aureus.
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Reference
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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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