Mutation Details for c.2215delG
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cDNA Name
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c.2215delG
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Protein Name
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p.Val739TyrfsX16
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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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2347delG
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Other Details
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A novel frameshift mutation 2347 delG, in exon 13, was detected in a French CF patient. The patient is pancreatic insufficient and carries [delta]F508 on the other chromosmome. 2347 delG was not found on further 50 non-[delta]F508 CF chromosomes. This mutation is predicted to shift the reading frame of the protein and introduces a terminator codon (UGA) at amino acid position 754.
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Contributors
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Bienvenu T,
Cazeneuve C,
Kaplan JC,
Beldjord C
1994-06-07
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Institute
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Hopitaux de Paris
Paris, France
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Phenotype Information
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CFTR2
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Reference
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Bienvenu et al. (NL#63)
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