Mutation Details for c.(?_2620)_(3367_?)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.(?_2620)_(3367_?)del
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Exon or Intron
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exon 16 - exon 20
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Legacy Exon or Intron
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exon 14b - exon 17b
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CFTRdele14b-17b
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Other Details
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Identified on a CF chromosome from MALTE
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Contributors
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F. CHEVALIER-PORST, D. BOZON
2003-10-07
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Institute
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Biochimie Pediatrique - Hopital DEBROUSSE ÐLYON-FRANCE
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Submitted Phenotype Details
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The patient was female and presented with a severe classical form of CF ( positive sweat test ). The other was F508del. Screening of 1700 CF chromosomes did not identified any other positive chromosome
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Reference
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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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