Mutation Details for c.720_741delAGGGAGAATGATGATGAAGTAC
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cDNA Name
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c.720_741delAGGGAGAATGATGATGAAGTAC
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Protein Name
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p.Gly241GlufsX13
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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852del22
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Other Details
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This is a frameshift mutation in exon 6A due to a deletion of 22bp, starting wtih bp 852. The mutation (del22bp852) was found in a single individual that has F508 on the other chromosome.
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Contributors
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Dean M, Belle White M, Gerrard B
1990-09-30
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Institute
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National Cancer Institute
Frederick, MD, USA
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Phenotype Information
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CFTR2
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Reference
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Dean et al. 1992
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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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