Mutation Details for c.2157_2163delinsGT
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cDNA Name
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c.2157_2163delinsGT
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Protein Name
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p.Gln720MetfsX11
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2289-2295del7bpinsGT
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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 22 months of age, pancreatic insufficient with sinusitis, sweat chloride level of 104mmol/L, FEV 57%, FVC 74 %, colonized with Pseudomonas aeruginosa. The other mutant allele is deltaF508.
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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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