Mutation Details for c.1153_1154insAT
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cDNA Name
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c.1153_1154insAT
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Protein Name
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p.Asn386IlefsX3
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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1288insTA
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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.
2003-06-26
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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 2 months of age; pancreatic insufficient, sweat chloride level was 91mmol/L; had elevated liver function and microbial colonization with Pseudomonas auregunisa. Patient is homozygous for this mutation. Another Hispanic male patient heterozygous for this mutation was diagnosed at 8 months of age; sweat chloride level was 97 mmol/L. He was pancreatic insufficient; FEV 88%; FVC 100%. The other mutant allele is unidentified.
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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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