Mutation Details for c.2277delC
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cDNA Name
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c.2277delC
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Protein Name
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p.Thr760ArgfsX11
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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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2409delC
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Other Details
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Contributors
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Bulman M, Brownsell E, Schwarz MJ.
2008-07-24
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Institute
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Regional Molecular Genetics Laboratory
St Mary’s Hospital, Manchester, England
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Submitted Phenotype Details
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This one year old child presented with failure to thrive, a positive sweat test and chest symptoms. Her father is of Chinese origin and her mother is German. F508del was detected on the other chromosome.No other sequence changes were found after sequencing the entire coding region of the gene.
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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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