Mutation Details for c.3064_3117delGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAA
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cDNA Name
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c.3064_3117delGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAA
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Protein Name
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p.Val1022_Gln1039del
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3196del54
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Other Details
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3196del54 was found by DGGE in a black CF patient from South Africa.
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Contributors
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Desgorges M,
Carles S,
Tuffery S,
Claustres M,
Ramsay M
1995-02-09
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Institute
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Institut de Biologie Montpellier,
France
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Submitted Phenotype Details
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The patient carrying 3120+1G->A on the other allele is PI, has positive sweat chloride and severe lung disease. (pers. corr. Claustres)
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Reference
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Desgeorges et al. (NL#65)
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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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