Mutation Details for c.228_229insT
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cDNA Name
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c.228_229insT
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Protein Name
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p.Trp79LeufsX32
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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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360-365insT
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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 female patient, diagnosed at 10 months of age; pancreatic sufficient, sweat chloride level was 84mmol/L; FEV 62%; FVC 84%. The other mutant allele is G542X.
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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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