Mutation Details for c.870-3T>G
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cDNA Name
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c.870-3T>G
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Exon or Intron
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intron 7
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Legacy Exon or Intron
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intron 6b
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1002-3T->G
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Other Details
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The 1002-3 T->G mutation was detected in a 38 year old male African-American CF patient. His other CF allele is the [delta]F508 mutation. The diagnosis of CF was established at the age of 18 years with sweat chloride concentraion of 112 mM. The patient is pancreatic insufficient and suffers from severe lung disease (FEV1 21% 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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Center 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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