Mutation Details for c.2290C>T
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cDNA Name
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c.2290C>T
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Protein Name
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p.Arg764X
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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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R764X
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Other Details
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The above was deleted in a 32-year old African-American female CF patient whose other mutation was [delta]F508. She was diagnosed at age 11 with repeated respiratory symptoms but remained pancreatic sufficient thus far.
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Contributors
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Macek M Jr,
Egan M E,
Mackova A,
Cutting G R
1995-04-24
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Institute
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John Hopkins Medical Institutions
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Phenotype Information
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CFTR2
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Reference
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Macek et al. (NL#66)
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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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