Mutation Details for c.988G>T
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cDNA Name
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c.988G>T
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Protein Name
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p.Gly330X
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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G330X
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Other Details
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The G330X nonsense mutation was detected in only one African American CF chromosome of 50 screened. The patient carries R553X on the other allele. He is a 20 year old male with severe pancreatic disease (meconium ileus at birth and diabetes now) and mild to moderate lung disease.
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Contributors
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Hamosh A,
Kiesewetter S,
Macek MJr,
Davis C,
Cutting GR
1993-03-17
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Institute
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Johsn Hopkins Hopsital
Baltimore, MD, USA
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Phenotype Information
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CFTR2
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Reference
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Hamosh et al. (NL#54)
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