Mutation Details for c.(?_2909)_(33367_?)del
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.(?_2909)_(33367_?)del
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Exon or Intron
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exon 18 - exon 20
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Legacy Exon or Intron
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exon 16 - exon 17b
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CFTRdele16-17b
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Other Details
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This deletion starts in intron 15 and ends in intron 17b and removes 7 kb of the CFTR gene. This deletion is in frame and was also found once out of 1500 CF chromosomes.The father who has this deletion is of armenian origin.
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Contributors
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Chevalier-Porst F,
Bozon D
2000-04-25
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Institute
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Biochimie Pediatrique
Hopital Debrousse,
Lyon France
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Submitted Phenotype Details
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The male patient (8 years old) carries 3849+10kbC->T on the other allele and has sweat chloride 82 mmol/l. (pers. corr. Bozon)
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Reference
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Chevalier-Porst & Bozon 2000
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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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