Mutation Details for c.987delA
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cDNA Name
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c.987delA
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Protein Name
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p.Gly330GlufsX39
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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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1119delA
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Other Details
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The 1119 del A mutation was detected in a 5 year old male African-American CF patient. This mutation is compounded with the [delta]F508 mutation. The patient was diagnosed at the age of two months with sweat chloride concentration of 73mM. He is pancreatic insufficient with moderate lung disease (FEV1 73% predicted).
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Contributors
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Mackova A,
Macek MJr,
Cutting GR
1994-10-18
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Institute
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Cneter for Medical Genetics
Baltimore, MD, USA
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Submitted Phenotype Details
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Reference
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Mackova et al. (NL#64)
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