Mutation Details for c.580G>A
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cDNA Name
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c.580G>A
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Protein Name
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p.Gly194Arg
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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G194R
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Other Details
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Ambry test result also indicate 1341+1 G to A on intron 8 and heterozygous presence of a 5T variant in intron 8.
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Contributors
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Gulnur Com
2005-11-03
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Institute
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Pediatric Pulmonology, Children's Hospital , university of Alabama, USA
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Submitted Phenotype Details
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The initial pancreatic lipase levels of the individual (4-month-old African American) were abnormal. His tracheal aspiration culture grew Xanthomonas maltophilia. Two sweat chloride test done showed values between 40 to 60mmol/L. While his stool elastase-1 was normal lipase levels were continuously elevated.
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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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