Mutation Details for c.3140-54_3140-649del
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cDNA Name
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c.3140-54_3140-649del
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Exon or Intron
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intron 19
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Legacy Exon or Intron
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intron 17a
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3272-54del704
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Other Details
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There is a new deletion detected in a CF patient of Italian origin. The deletion spans over 704 bp from 3272-54 to 3499+422 bp, removing exon 17b. This deletion has been identified on the paternal CF chromosome in a patient having pancreatic insufficiency and bearing the [delta]F508 mutation on the maternal chromosome.
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Contributors
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Ferrari M,
Magnani C,
Magnaghi P,
Taramelli R
1994-10-06
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Institute
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Istituto di Ricovero e Cura a Caraterre Scientifico
Milano, Italy
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Submitted Phenotype Details
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The 27-year old female, diagnosed when 10 years old, carried deltaF508 on the other allele. She went under lung transplant for severe lung disease. She had sweat chloride 143 mmol/l. (pers. corr. Cremonesi)
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Reference
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Ferrari et al. (NL#63)
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