Mutation Details for c.2353C>T
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cDNA Name
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c.2353C>T
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Protein Name
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p.Arg785X
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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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R785X
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Other Details
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A nonsense mutation was foun in exon 13 of the CFTR gene. The mutation is a C->T transition at residue 2485 chnaging arginine to stop (R785X). No recognizable restriction site is altered by this mutation. R785X was detected by SSCP.heteroduplex anaylsis and was observed once in our panel of English CF patients.
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Contributors
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Wallace A,
Tassabehji M
1994-06-11
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Institute
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St. Mary's Hospital
Manchester, UK
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Submitted Phenotype Details
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Reference
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Wallace & Tassabehji (NL#62)
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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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