Mutation Details for c.3085T>A
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.3085T>A
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Protein Name
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p.Leu1029Met
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Peldova P. - Department of Biology and medical Genetics, 2nd Faculty of Medicine, Faculty Hospital Motol, Prague, Czech Republic | - | Macek Jr.M. - Department of Biology and medical Genetics, 2nd Faculty of Medicine, Faculty Hospital Motol, Prague, Czech Republic |
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Submitted Phenotype Details
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The newborn (male) was detected by newborn screening. Sweat chloride level 68 mmol/l, pancreatic insufficient, marginal fecal elastase, normal lungs fuction. Carrying F508del on the other allele.
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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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