Mutation Details for c.869+4A>C;c.861_865delCTTAA
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cDNA Name
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c.869+4A>C;c.861_865delCTTAA
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Protein Name
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p.Asn287LysfsX21
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Exon or Intron
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intron 7
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Legacy Exon or Intron
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intron 6b
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1001+4A->C+993delCTTAA
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Other Details
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For the 993delCTTAA also see 991del5 reported by Leoni in 1996.
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Contributors
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Ferec C.
2002-01-01
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Institute
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Centre de Transfusion Sanguine et de Biogenetique Brest, France
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Submitted Phenotype Details
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The French female CF patient (4y) was diagnosed at 1 year of age. Her sweat chloride was 150 mmol/l and she had recurrent respiratory symptoms. (pers. corr. Ferec)
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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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