Mutation Details for c.3400_3401delACinsGTA
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cDNA Name
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c.3400_3401delACinsGTA
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Protein Name
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p.Thr1134Ala
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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3532AC->GTA
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Other Details
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This complex mutation was found by DGGE and identified by direct DNA sequencing in CF patient from Southern France. The patient carries [delta]F508 on the other CF chromosome.
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Contributors
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Claustres M,
Des Georges M
1998-08-04
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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 mutation was found in a 12 years old female patient diagnosed at 2 years and 6 months, PI, with positive sweat chloride and mild lung disease. The patient carries [delta]F508 on the other CF chromosome.(pers. corr. Claustres)
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Reference
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Claustres & Des Georges (NL#70)
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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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