Mutation Details for c.3039delC
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cDNA Name
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c.3039delC
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Protein Name
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p.Tyr1014ThrfsX9
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3171delC
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Other Details
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This mutation was detected by TTGE and DNA sequencing. It was found in a Hispanic cystic fibrosis patient. He had [delta]F508 mutaion on the other allele.
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Contributors
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Zhang Y,
Wong L
2000-01-21
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Institute
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Institute for Molecular and Human Genetics
Georgetown University Medical Center,
Washington DC, USA
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Submitted Phenotype Details
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The patient, carrying deltaF508 on the other allele, has sweat chloride 87 mmol/l, is PI, has bacterial lung colonization and associated hypothyroidism. (Wong et al. 2001)
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Reference
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Zhang & Wong 2000
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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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