Mutation Details for c.247_248insT
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cDNA Name
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c.247_248insT
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Protein Name
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p.Tyr84LeufsX27
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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379-381insT
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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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Hispanic male patient, diagnosed at 3 months of age; pancreatic insufficient; sweat chloride level was 79mmol/L; colonized with Staphylococcus aureus. The other mutant allele is delta F508.
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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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