Mutation Details for c.1984_1987delCTAA
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cDNA Name
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c.1984_1987delCTAA
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Protein Name
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p.Thr663ArgfsX8
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2116delCTAA
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Other Details
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This mutation was detected by DGGE analysis followed by direct sequencing in a CF patient carrying [delta]F508 in the other chromosome. It was found once out of 800 Italian CF chromosomes and 100 control chromosomes from Italian population.
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Contributors
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Seia M,
Padoan R,
Cantù A,
Giunta A
1999-09-23
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Institute
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Lab. Genetica Molecolare,
Centro Fibrosi Cistica,
ICP e Università degli Studi,
Italy
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Submitted Phenotype Details
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Clinical features of patient:female, severe lung disease, pancreatic insufficiency, death at 5yrs for respiratory insufficiency. Diagnosed at the age of 2yrs, with a sweat test of 92mEq/l chloride. She carried deltaF508 on the other allele. (pers. corr. Padoan)
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Reference
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Seia et al. 1999
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