Mutation Details for c.-887C>T
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cDNA Name
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c.-887C>T
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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-816C->T
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Other Details
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This mutation was detected by DGGE using chemical clamps and identified by direct sequencing. This involved a change from C to T at -816 form the cap site. This mutation can easily be detected by restriction enzyme digestion, as it creates an Mboll site. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. The patient presents a moderate pulmonary form.
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Contributors
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Bienvenu T,
Cazeneuve C,
Kaplan JC,
Beldjord C
1993-12-22
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Institute
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Hopitaux de Paris
Paris, France
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Submitted Phenotype Details
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The mutation was found in a 45 years old patient diagnosed at 34y. He is PS, has moderate lung disease with bronchiectasis, and Pseudomonas Aeruginosa colonization. No other mutation was identified. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#60)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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