Mutation Details for c.1018delA
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cDNA Name
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c.1018delA
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Protein Name
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p.Ile340SerfsX29
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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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1150delA
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Other Details
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The patient is a North American white female of European ancestry who is a compound heterozygote ([delta]F508/1150 del A). At the present age of 7, the patient has elevated sweat chlorides, is pancreatic insufficient, but currently has very mild lung disease. The mutation was identified at the Ohio State Molecular Pathology laboratory by heteroduplex analysis on an MDE gel, confirmed on both strands by direct PCR sequencing. WE have not observed this mutation on any other CF alleles.
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Contributors
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Prior T,
Stein J,
Highsmith E
1994-06-10
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Institute
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Ohio State University
Columbus, Ohio, USA
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Submitted Phenotype Details
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The CF patient has positive sweat chloride, mild lung disease and is PI. (pers. corr. Highsmith)
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Reference
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Prior et al. (NL#63)
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